Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (1/1486)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma.  (+info)

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (2/1486)

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.  (+info)

Origin of DNA damage in ejaculated human spermatozoa. (3/1486)

The molecular basis of many forms of male infertility is poorly defined. One area of research that has been studied intensely is the integrity of the DNA in the nucleus of mature ejaculated spermatozoa. It has been shown that, in men with abnormal sperm parameters, the DNA is more likely to possess strand breaks. However, how and why this DNA damage originates in certain males and how it may influence the genetic project of a mature spermatozoon is unknown. Two theories have been proposed to describe the origin of this DNA damage in mature spermatozoa. The first arises from studies performed in animal models and is linked to the unique manner in which mammalian sperm chromatin is packaged, while the second attributes the nuclear DNA damage in mature spermatozoa to apoptosis. One of the factors implicated in sperm apoptosis is the cell surface protein, Fas. In this review, we discuss the possible origins of DNA damage in ejaculated human spermatozoa, how these spermatozoa arrive in the ejaculate of some men, and what consequences they may have if they succeed in their genetic project.  (+info)

Isolation and characterization of a new human breast cancer cell line, KPL-4, expressing the Erb B family receptors and interleukin-6. (4/1486)

A new human breast cancer cell line, KPL-4, was recently isolated from the malignant pleural effusion of a breast cancer patient with an inflammatory skin metastasis. This cell line can be cultured under serum-free conditions and is tumorigenic in female athymic nude mice. Flow cytometric analysis revealed the expression of Erb B-1, -2 and -3. Dot blot hybridization showed a 15-fold amplification of the erb B-2. Reverse transcription-polymerase chain reaction analysis showed a detectable level of mRNA expression of all the Erb B family receptors. In addition, all the receptors were autophosphorylated under a serum-supplemented condition. Unexpectedly, transplanted KPL-4 tumours induced cachexia of recipient mice. A high concentration of interleukin-6 (IL-6) was detected in both the culture medium and the serum of mice. The weight of tumours significantly correlated with the serum IL-6 level. The antiproliferative effect of a humanized anti-Erb B-2 monoclonal antibody, rhuMAbHER2, was investigated. This antibody significantly inhibited the growth of KPL-4 cells in vitro but modestly in vivo. Loss of mouse body weight was partly reversed by rhuMAbHER2. These findings suggest that KPL-4 cells may be useful in the development of new strategies against breast cancer overexpressing the Erb B family receptors and against IL-6-induced cachexia.  (+info)

Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients. (5/1486)

A follow-up study was performed to investigate the impact of the detection of a chromosome abnormality in infertile men who are candidates for intracytoplasmic sperm injection (ICSI) treatment. In this collaborative study between clinical genetics centres and fertility clinics in the Netherlands, 75 ICSI couples of which the male partners had a chromosome abnormality were included. All couples were extensively counselled on the risk of having a chromosomally unbalanced child. Forty-two out of 75 couples chose to proceed with the ICSI treatment. So far, treatment has resulted in a pregnancy in 11 cases. Four of them opted to have invasive prenatal diagnosis. Despite the genetic risks related to a chromosome abnormality in infertile men, a small majority (56%) of the couples did not refrain from the ICSI treatment.  (+info)

Renal function studies in an infant with 4p (-) syndrome. (6/1486)

An infant with the syndrome of deletion of the short arm of chromosome 4 is described. In addition, this child had renal insufficiency, which is found rarely in association with the 4p(--) syndrome. Previous reports of this syndrome have described only isolated gross structural abnormalites of the urinary tract. In the case discussed here, we present clinical and functional data which indicate that this patient had bilateral renal dysplasia.  (+info)

Genomic instability and recurrent breakpoints are main cytogenetic findings in Hodgkin's disease. (7/1486)

BACKGROUND AND OBJECTIVE: Successful cytogenetic studies in Hodgkin's disease (HD) are rare, and, except for hyperdiploidy, no chromosome changes typical for this disorder have been described. The purpose of this study was to collect cytogenetic information from a new series of lymphoid neoplasms diagnosed either as classical HD or as Hodgkin's-like anaplastic large cell lymphoma (HD-like ALCL), according to the REAL Classification. DESIGN AND METHODS: We studied 27 cases of HD and 10 cases of HD-like ALCL. Cytogenetic investigations were performed on lymph nodes (35 cases), bone marrow or pleural effusion. A large screening of slides was performed to detect abnormal metaphases despite the low mitotic index of Reed-Sternberg cells. In addition to ours, available published data were analyzed in detail to identify recurring cytogenetic events. RESULTS: Metaphases which could be analyzed were obtained in 86.5% of cases, with 59.4% showing abnormal clones. We found a peculiar kind of cytogenetic instability in which, despite variations in the type of structural rearrangements, chromosome breakpoints were non-randomly distributed. Moreover, from our data plus those collected from literature on HD (total 177 cases), the number of breakpoints was higher in patients in a more advanced clinical stage. INTERPRETATION AND CONCLUSIONS: Cytogenetic studies in HD are highly informative regarding clonality, provided large numbers of metaphases are examined. Based on karyotype, genetic changes in HD and HD-like ALCL are similar. Results are consistent with a high degree of chromosomal instability and predominance of hyperdiploid complex karyotypes. Chromosome breakpoints are non-randomly distributed and more numerous in advanced clinical stages.  (+info)

The 'Mickey Mouse' sign and the diagnosis of anencephaly in early pregnancy. (8/1486)

OBJECTIVES: To assess the sonographic screening for anencephaly in the first trimester in a low-risk obstetric population. METHODS: Since 1994, 5388 women attended our clinic for a first-trimester scan (11-14 weeks of gestation) and screening for structural and chromosomal abnormalities. The patients underwent transabdominal scanning, and transvaginal scanning if necessary. RESULTS: The ultrasonographic appearances of anencephaly in the first trimester are different from the familiar second-trimester signs. The cerebral hemispheres are present and exposed to the surrounding amniotic fluid. The ultrasound appearances in the coronal section of the head are best described as 'Mickey Mouse face'. There were six cases of anencephaly (incidence 1.1:1000). All cases were diagnosed in the first trimester and five demonstrated this sign. There were no false-positive diagnoses. The crown-rump length was significantly reduced in all affected fetuses. CONCLUSION: First-trimester ultrasonographic diagnosis of anencephaly is accurate, but sonographers should be familiar with the ultrasound appearances that are different from those in the second trimester.  (+info)

Sex chromosome disorders are genetic conditions that occur due to an atypical number or structure of the sex chromosomes, which are X and Y. Normally, females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). However, in sex chromosome disorders, there is a variation in the number or composition of these chromosomes.

The most common sex chromosome disorders include:

1. Turner syndrome (Monosomy X): Occurs when a female has only one X chromosome (45,X). This condition affects about 1 in every 2,500 female births and can lead to short stature, infertility, heart defects, and learning disabilities.
2. Klinefelter syndrome (XXY): Occurs when a male has an extra X chromosome (47,XXY). This condition affects about 1 in every 500-1,000 male births and can lead to tall stature, infertility, breast development, and learning disabilities.
3. Jacobs syndrome (XYY): Occurs when a male has an extra Y chromosome (47,XYY). This condition affects about 1 in every 1,000 male births and can lead to tall stature, learning disabilities, and behavioral issues.
4. Triple X syndrome (XXX): Occurs when a female has an extra X chromosome (47,XXX). This condition affects about 1 in every 1,000 female births and can lead to mild developmental delays and learning disabilities.
5. Other rare sex chromosome disorders: These include conditions like 48,XXXX, 49,XXXXY, and mosaicism (a mixture of cells with different chromosome compositions).

Sex chromosome disorders can have varying degrees of impact on an individual's physical and cognitive development. While some individuals may experience significant challenges, others may have only mild or no symptoms at all. Early diagnosis and appropriate interventions can help improve outcomes for those affected by sex chromosome disorders.

Disorders/Differences of Sex Development (DSDs) related to sex chromosomes are conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. These disorders are caused by differences in the number or structure of the sex chromosomes (X and Y). Some examples of DSDs related to sex chromosomes include:

1. Turner Syndrome (45,X): This condition occurs when an individual has only one X chromosome instead of the typical pair. Affected individuals typically have female physical characteristics but may have short stature, webbed neck, and other features. They usually have underdeveloped ovaries and are unable to menstruate or bear children without medical intervention.

2. Klinefelter Syndrome (47,XXY): This condition occurs when an individual has an extra X chromosome, resulting in a total of 3 sex chromosomes (XXY). Affected individuals typically have male physical characteristics but may have reduced fertility, breast development, and other features.

3. Triple X Syndrome (47,XXX): This condition occurs when an individual has an extra X chromosome, resulting in a total of 3 sex chromosomes (XXX). Affected individuals typically have normal female physical characteristics but may have learning disabilities and other developmental delays.

4. Jacobs Syndrome (47,XYY): This condition occurs when an individual has an extra Y chromosome, resulting in a total of 3 sex chromosomes (XYY). Affected individuals typically have normal male physical characteristics but may have learning disabilities and other developmental delays.

5. Other variations such as 45,X/46,XY mosaicism or 46,XX/46,XY true hermaphroditism can also occur, leading to a range of physical and developmental characteristics that may not fit typical definitions of male or female.

It's important to note that individuals with DSDs should receive comprehensive medical care from a team of specialists who can provide individualized treatment plans based on their specific needs and circumstances.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Bacterial chromosomes are typically circular, double-stranded DNA molecules that contain the genetic material of bacteria. Unlike eukaryotic cells, which have their DNA housed within a nucleus, bacterial chromosomes are located in the cytoplasm of the cell, often associated with the bacterial nucleoid.

Bacterial chromosomes can vary in size and structure among different species, but they typically contain all of the genetic information necessary for the survival and reproduction of the organism. They may also contain plasmids, which are smaller circular DNA molecules that can carry additional genes and can be transferred between bacteria through a process called conjugation.

One important feature of bacterial chromosomes is their ability to replicate rapidly, allowing bacteria to divide quickly and reproduce in large numbers. The replication of the bacterial chromosome begins at a specific origin point and proceeds in opposite directions until the entire chromosome has been copied. This process is tightly regulated and coordinated with cell division to ensure that each daughter cell receives a complete copy of the genetic material.

Overall, the study of bacterial chromosomes is an important area of research in microbiology, as understanding their structure and function can provide insights into bacterial genetics, evolution, and pathogenesis.

Chromosome segregation is the process that occurs during cell division (mitosis or meiosis) where replicated chromosomes are separated and distributed equally into two daughter cells. Each chromosome consists of two sister chromatids, which are identical copies of genetic material. During chromosome segregation, these sister chromatids are pulled apart by a structure called the mitotic spindle and moved to opposite poles of the cell. This ensures that each new cell receives one copy of each chromosome, preserving the correct number and composition of chromosomes in the organism.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

Human chromosome pair 17 consists of two rod-shaped structures present in the nucleus of each human cell. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex called chromatin. Chromosomes carry genetic information in the form of genes, which are segments of DNA that contain instructions for the development and function of an organism.

Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 17 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome 17 is a medium-sized chromosome and contains an estimated 800 million base pairs of DNA. It contains approximately 1,500 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome 17 is associated with several genetic disorders, including inherited cancer syndromes such as Li-Fraumeni syndrome and hereditary nonpolyposis colorectal cancer (HNPCC). Mutations in genes located on chromosome 17 can increase the risk of developing various types of cancer, including breast, ovarian, colon, and pancreatic cancer.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

Chromosomes in plants are thread-like structures that contain genetic material, DNA, and proteins. They are present in the nucleus of every cell and are inherited from the parent plants during sexual reproduction. Chromosomes come in pairs, with each pair consisting of one chromosome from each parent.

In plants, like in other organisms, chromosomes play a crucial role in inheritance, development, and reproduction. They carry genetic information that determines various traits and characteristics of the plant, such as its physical appearance, growth patterns, and resistance to diseases.

Plant chromosomes are typically much larger than those found in animals, making them easier to study under a microscope. The number of chromosomes varies among different plant species, ranging from as few as 2 in some ferns to over 1000 in certain varieties of wheat.

During cell division, the chromosomes replicate and then separate into two identical sets, ensuring that each new cell receives a complete set of genetic information. This process is critical for the growth and development of the plant, as well as for the production of viable seeds and offspring.

Chromosomes in fungi are thread-like structures that contain genetic material, composed of DNA and proteins, present in the nucleus of a cell. Unlike humans and other eukaryotes that have a diploid number of chromosomes in their somatic cells, fungal chromosome numbers can vary widely between and within species.

Fungal chromosomes are typically smaller and fewer in number compared to those found in plants and animals. The chromosomal organization in fungi is also different from other eukaryotes. In many fungi, the chromosomes are condensed throughout the cell cycle, whereas in other eukaryotes, chromosomes are only condensed during cell division.

Fungi can have linear or circular chromosomes, depending on the species. For example, the model organism Saccharomyces cerevisiae (budding yeast) has a set of 16 small circular chromosomes, while other fungi like Neurospora crassa (red bread mold) and Aspergillus nidulans (a filamentous fungus) have linear chromosomes.

Fungal chromosomes play an essential role in the growth, development, reproduction, and survival of fungi. They carry genetic information that determines various traits such as morphology, metabolism, pathogenicity, and resistance to environmental stresses. Advances in genomic technologies have facilitated the study of fungal chromosomes, leading to a better understanding of their structure, function, and evolution.

Chromosomes are thread-like structures that contain genetic material, made up of DNA and proteins, in the nucleus of cells. In humans, there are typically 46 chromosomes arranged in 23 pairs, with one member of each pair coming from each parent. The six pairs of chromosomes numbered 6 through 12, along with the X chromosome, are part of these 23 pairs and are referred to as autosomal chromosomes and a sex chromosome.

Human chromosome 6 is one of the autosomal chromosomes and contains an estimated 170 million base pairs and around 1,500 genes. It plays a role in several important functions, including immune response, cell signaling, and nervous system function.

Human chromosome 7 is another autosomal chromosome that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 is best known for containing the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, whose mutations can lead to cystic fibrosis.

Human chromosome 8 is an autosomal chromosome that contains around 146 million base pairs and approximately 900 genes. Chromosome 8 has been associated with several genetic disorders, including Smith-Magenis syndrome and 8p deletion syndrome.

Human chromosome 9 is an autosomal chromosome that contains around 139 million base pairs and approximately 950 genes. Chromosome 9 has been linked to several genetic disorders, including Hereditary Spherocytosis and CHARGE syndrome.

Human chromosome 10 is an autosomal chromosome that contains around 135 million base pairs and approximately 800 genes. Chromosome 10 has been associated with several genetic disorders, including Dyschondrosteosis and Melanoma.

Human chromosome 11 is an autosomal chromosome that contains around 135 million base pairs and approximately 800 genes. Chromosome 11 has been linked to several genetic disorders, including Wilms tumor and Beckwith-Wiedemann syndrome.

Human chromosome 12 is an autosomal chromosome that contains around 133 million base pairs and approximately 750 genes. Chromosome 12 has been associated with several genetic disorders, including Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

The X chromosome is one of the two sex chromosomes in humans. Females have two X chromosomes, while males have one X and one Y chromosome. The X chromosome contains around 155 million base pairs and approximately 1,000 genes. It has been linked to several genetic disorders, including Duchenne muscular dystrophy and Fragile X syndrome.

The Y chromosome is the other sex chromosome in humans. Males have one X and one Y chromosome, while females have two X chromosomes. The Y chromosome contains around 59 million base pairs and approximately 70 genes. It is primarily responsible for male sexual development and fertility.

In summary, the human genome consists of 23 pairs of chromosomes, including 22 autosomal pairs and one sex chromosome pair (XX in females and XY in males). The total length of the human genome is approximately 3 billion base pairs, and it contains around 20,000-25,000 protein-coding genes. Chromosomes are made up of DNA and proteins called histones, which help to package the DNA into a compact structure. The chromosomes contain genetic information that is passed down from parents to their offspring through reproduction.

Human chromosome pair 2 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. Chromosomes are the physical carriers of inheritance, and human cells typically contain 23 pairs of chromosomes for a total of 46 chromosomes.

Chromosome pair 2 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 2 is approximately 247 million base pairs in length and contains an estimated 1,000-1,300 genes. These genes play crucial roles in various biological processes, including development, metabolism, and response to environmental stimuli.

Abnormalities in chromosome pair 2 can lead to genetic disorders, such as cat-eye syndrome (CES), which is characterized by iris abnormalities, anal atresia, hearing loss, and intellectual disability. This disorder arises from the presence of an extra copy of a small region on chromosome 2, resulting in partial trisomy of this region. Other genetic conditions associated with chromosome pair 2 include proximal 2q13.3 microdeletion syndrome and Potocki-Lupski syndrome (PTLS).

Human chromosome pair 22 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosome pair 22 is one of the 22 autosomal pairs of human chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome 22 is the second smallest human chromosome, with each arm of the chromosome designated as p and q. The short arm is labeled "p," and the long arm is labeled "q."

Chromosome 22 contains several genes that are associated with various genetic disorders, including DiGeorge syndrome, velocardiofacial syndrome, and cat-eye syndrome, which result from deletions or duplications of specific regions on the chromosome. Additionally, chromosome 22 is the location of the NRXN1 gene, which has been associated with an increased risk for autism spectrum disorder (ASD) and schizophrenia when deleted or disrupted.

Understanding the genetic makeup of human chromosome pair 22 can provide valuable insights into human genetics, evolution, and disease susceptibility, as well as inform medical diagnoses, treatments, and research.

Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.

Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.

Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

Chromosome pairing, also known as chromosome synapsis, is a process that occurs during meiosis, which is the type of cell division that results in the formation of sex cells or gametes (sperm and eggs).

In humans, each cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. Of these, 22 pairs are called autosomal chromosomes, and they are similar in size and shape between the two copies in a pair. The last pair is called the sex chromosomes (X and Y), which determine the individual's biological sex.

During meiosis, homologous chromosomes (one from each parent) come together and pair up along their lengths in a process called synapsis. This pairing allows for the precise alignment of corresponding genes and genetic regions between the two homologous chromosomes. Once paired, the chromosomes exchange genetic material through a process called crossing over, which increases genetic diversity in the resulting gametes.

After crossing over, the homologous chromosomes separate during meiosis I, followed by the separation of sister chromatids (the two copies of each chromosome) during meiosis II. The end result is four haploid cells, each containing 23 chromosomes, which then develop into sperm or eggs.

Chromosome pairing is a crucial step in the process of sexual reproduction, ensuring that genetic information is accurately passed from one generation to the next while also promoting genetic diversity through recombination and independent assortment of chromosomes.

Mammalian chromosomes are thread-like structures that exist in the nucleus of mammalian cells, consisting of DNA, hist proteins, and RNA. They carry genetic information that is essential for the development and function of all living organisms. In mammals, each cell contains 23 pairs of chromosomes, for a total of 46 chromosomes, with one set inherited from the mother and the other from the father.

The chromosomes are typically visualized during cell division, where they condense and become visible under a microscope. Each chromosome is composed of two identical arms, separated by a constriction called the centromere. The short arm of the chromosome is labeled as "p," while the long arm is labeled as "q."

Mammalian chromosomes play a critical role in the transmission of genetic information from one generation to the next and are essential for maintaining the stability and integrity of the genome. Abnormalities in the number or structure of mammalian chromosomes can lead to various genetic disorders, including Down syndrome, Turner syndrome, and Klinefelter syndrome.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

Bipolar disorder, also known as manic-depressive illness, is a mental health condition that causes extreme mood swings that include emotional highs (mania or hypomania) and lows (depression). When you become depressed, you may feel sad or hopeless and lose interest or pleasure in most activities. When your mood shifts to mania or hypomania (a less severe form of mania), you may feel euphoric, full of energy, or unusually irritable. These mood swings can significantly affect your job, school, relationships, and overall quality of life.

Bipolar disorder is typically characterized by the presence of one or more manic or hypomanic episodes, often accompanied by depressive episodes. The episodes may be separated by periods of normal mood, but in some cases, a person may experience rapid cycling between mania and depression.

There are several types of bipolar disorder, including:

* Bipolar I Disorder: This type is characterized by the occurrence of at least one manic episode, which may be preceded or followed by hypomanic or major depressive episodes.
* Bipolar II Disorder: This type involves the presence of at least one major depressive episode and at least one hypomanic episode, but no manic episodes.
* Cyclothymic Disorder: This type is characterized by numerous periods of hypomania and depression that are not severe enough to meet the criteria for a full manic or depressive episode.
* Other Specified and Unspecified Bipolar and Related Disorders: These categories include bipolar disorders that do not fit the criteria for any of the other types.

The exact cause of bipolar disorder is unknown, but it appears to be related to a combination of genetic, environmental, and neurochemical factors. Treatment typically involves a combination of medication, psychotherapy, and lifestyle changes to help manage symptoms and prevent relapses.

Human chromosome pair 10 refers to a group of genetic materials that are present in every cell of the human body. Chromosomes are thread-like structures that carry our genes and are located in the nucleus of most cells. They come in pairs, with one set inherited from each parent.

Chromosome pair 10 is one of the 22 autosomal chromosome pairs, meaning they contain genes that are not related to sex determination. Each member of chromosome pair 10 is a single, long DNA molecule that contains thousands of genes and other genetic material.

Chromosome pair 10 is responsible for carrying genetic information that influences various traits and functions in the human body. Some of the genes located on chromosome pair 10 are associated with certain medical conditions, such as hereditary breast and ovarian cancer syndrome, neurofibromatosis type 1, and Waardenburg syndrome type 2A.

It's important to note that while chromosomes carry genetic information, not all variations in the DNA sequence will result in a change in phenotype or function. Some variations may have no effect at all, while others may lead to changes in how proteins are made and function, potentially leading to disease or other health issues.

Human chromosome pair 8 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure known as a chromatin.

Human cells have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 8 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 8 has a similar size, shape, and banding pattern, and they are identical in males and females.

Chromosome pair 8 contains several genes that are essential for various cellular functions and human development. Some of the genes located on chromosome pair 8 include those involved in the regulation of metabolism, nerve function, immune response, and cell growth and division.

Abnormalities in chromosome pair 8 can lead to genetic disorders such as Wolf-Hirschhorn syndrome, which is caused by a partial deletion of the short arm of chromosome 4, or partial trisomy 8, which results from an extra copy of all or part of chromosome 8. Both of these conditions are associated with developmental delays, intellectual disability, and various physical abnormalities.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

Human chromosome pair 19 refers to a group of 19 identical chromosomes that are present in every cell of the human body, except for the sperm and egg cells which contain only 23 chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of DNA (deoxyribonucleic acid) molecules.

Each chromosome is made up of two arms, a shorter p arm and a longer q arm, separated by a centromere. Human chromosome pair 19 is an acrocentric chromosome, which means that the centromere is located very close to the end of the short arm (p arm).

Chromosome pair 19 contains approximately 58 million base pairs of DNA and encodes for around 1,400 genes. It is one of the most gene-dense chromosomes in the human genome, with many genes involved in important biological processes such as metabolism, immunity, and neurological function.

Abnormalities in chromosome pair 19 have been associated with various genetic disorders, including Sotos syndrome, which is characterized by overgrowth, developmental delay, and distinctive facial features, and Smith-Magenis syndrome, which is marked by intellectual disability, behavioral problems, and distinct physical features.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).

Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).

Artificial bacterial chromosomes (ABCs) are synthetic replicons that are designed to function like natural bacterial chromosomes. They are created through the use of molecular biology techniques, such as recombination and cloning, to construct large DNA molecules that can stably replicate and segregate within a host bacterium.

ABCs are typically much larger than traditional plasmids, which are smaller circular DNA molecules that can also replicate in bacteria but have a limited capacity for carrying genetic information. ABCs can accommodate large DNA inserts, making them useful tools for cloning and studying large genes, gene clusters, or even entire genomes of other organisms.

There are several types of ABCs, including bacterial artificial chromosomes (BACs), P1-derived artificial chromosomes (PACs), and yeast artificial chromosomes (YACs). BACs are the most commonly used type of ABC and can accommodate inserts up to 300 kilobases (kb) in size. They have been widely used in genome sequencing projects, functional genomics studies, and protein production.

Overall, artificial bacterial chromosomes provide a powerful tool for manipulating and studying large DNA molecules in a controlled and stable manner within bacterial hosts.

Human chromosome pair 12 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Chromosome pair 12 is the 12th pair of autosomal chromosomes, meaning they are not sex chromosomes (X or Y).

Chromosome 12 is a medium-sized chromosome and contains an estimated 130 million base pairs of DNA. It contains around 1,200 genes that provide instructions for making proteins and regulating various cellular processes. Some of the genes located on chromosome 12 include those involved in metabolism, development, and response to environmental stimuli.

Abnormalities in chromosome 12 can lead to genetic disorders, such as partial trisomy 12q, which is characterized by an extra copy of the long arm of chromosome 12, and Jacobsen syndrome, which is caused by a deletion of the distal end of the long arm of chromosome 12.

Human chromosomes are the thread-like structures located in the nucleus of human cells, which carry genetic information in the form of DNA. Humans have a total of 46 chromosomes arranged in 23 pairs. The first 22 pairs are called autosomes, and the last pair are the sex chromosomes, X and Y.

Chromosomes 1-3 are the largest human chromosomes, and they contain a significant portion of the human genome. Here is a brief overview of each:

1. Chromosome 1: This is the largest human chromosome, spanning about 8% of the human genome. It contains approximately 2,800 genes that are responsible for various functions such as cell growth and division, nerve function, and response to stimuli.
2. Chromosome 2: The second largest human chromosome, spanning about 7% of the human genome. It contains approximately 2,300 genes that are involved in various functions such as metabolism, development, and immune response.
3. Chromosome 3: This is the third largest human chromosome, spanning about 6% of the human genome. It contains approximately 1,900 genes that are responsible for various functions such as DNA repair, cell signaling, and response to stress.

It's worth noting that while these chromosomes contain a large number of genes, they also have significant amounts of non-coding DNA, which means that not all of the genetic material on these chromosomes is responsible for encoding proteins or other functional elements.

Chromosome painting is a molecular cytogenetic technique used to identify and visualize the specific chromosomes or chromosomal regions that are present in an abnormal location or number in a cell. This technique uses fluorescent probes that bind specifically to different chromosomes or chromosomal regions, allowing for their identification under a fluorescence microscope.

The process of chromosome painting involves labeling different chromosomes or chromosomal regions with fluorescent dyes of distinct colors. The labeled probes are then hybridized to the metaphase chromosomes of a cell, and any excess probe is washed away. The resulting fluorescent pattern allows for the identification of specific chromosomes or chromosomal regions that have been gained, lost, or rearranged in the genome.

Chromosome painting has numerous applications in medical genetics, including prenatal diagnosis, cancer cytogenetics, and constitutional genetic disorders. It can help to identify chromosomal abnormalities such as translocations, deletions, and duplications that may contribute to disease or cancer development.

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Human chromosome pair 14 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of the pair contains a single very long DNA molecule that carries an identical set of genes and other genetic elements, totaling approximately 105 million base pairs. These chromosomes play a crucial role in the development, functioning, and reproduction of human beings.

Chromosome 14 is one of the autosomal chromosomes, meaning it is not involved in determining the sex of an individual. It contains around 800-1,000 genes that provide instructions for producing various proteins responsible for numerous cellular functions and processes. Some notable genes located on chromosome 14 include those associated with neurodevelopmental disorders, cancer susceptibility, and immune system regulation.

Human cells typically have 23 pairs of chromosomes, including 22 autosomal pairs (numbered 1-22) and one pair of sex chromosomes (XX for females or XY for males). Chromosome pair 14 is the eighth largest autosomal pair in terms of its total length.

It's important to note that genetic information on chromosome 14, like all human chromosomes, can vary between individuals due to genetic variations and mutations. These differences contribute to the unique characteristics and traits found among humans.

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... , also known as ring 22, is a rare chromosomal disorder. Ring chromosomes occur when the ends of a chromosome ... Ring chromosome 22 is caused by a ring chromosome, a form of chromosome mutation where the ends of a chromosome lose genetic ... Bipolar disorder has been reported in adults with ring chromosome 22, and a link between hyperactivity and atypical bipolar ... Ring chromosome 22, like other major chromosomal disorders, is diagnosed via karyotype. Rarely, it may be detected prenatally ...
Human genetic disorders can be caused by ring chromosome formation. Although ring chromosomes are very rare, they have been ... Disorders arising from the formation of a ring chromosome include: Chromosome abnormalities Morgan, LV (Mar 1926). "Correlation ... A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first ... "Orphanet: Ring chromosome 6 syndrome". www.orpha.net. "Orphanet: Ring chromosome 7 syndrome". www.orpha.net. "Ring chromosome 8 ...
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A rare disorder that affects a person's chromosomes. This bibliography lists books of which Philippa Glanville is the author or ...
Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. Google ... Chromosome 7: DNA Sequence and Biology. 2003. Science 300, 767-772. Google Scholar citation Minassian et al. Mutations in a ... Earlier (1988-2003) with Lap-chee Tsui, he led studies of human chromosome 7, in particular in the mapping phase of the Human ... Google Scholar citation The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine Walking the jungles and ...
"Genetic studies of autistic disorder and chromosome 7". Genomics. 61 (3): 227-36. doi:10.1006/geno.1999.5968. PMID 10552924. ... Zhong H, Serajee FJ, Nabi R, Huq AH (January 2003). "No association between the EN2 gene and autistic disorder". Journal of ... "A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 7, Wikipedia articles ...
Both diseases are autosomal recessive disorders caused by mutations on chromosome 19. Severe insulin resistance and an ... Rabson-Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin resistance. The disorder is ... Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If ... The insulin receptor gene is located on the short arm (p) of chromosome 19. Mutations of the insulin-receptor gene lead to an ...
Hogart A, Wu D, LaSalle JM, Schanen NC (May 2010). "The comorbidity of autism with the genomic disorders of chromosome 15q11.2- ... Whereas males have only one X chromosome, meaning that if there is a mutation in a gene on an X chromosome, then that is the ... This association was concluded since females have two X chromosomes; if there is a mutation in a gene on an X chromosome, the ... This NLGN4 gene is found on both the X (NLGN4X) and the Y (NLGN4Y) chromosome. The sex chromosomes are 97% identical. It has ...
"Association between genes on chromosome 19p13.2 and panic disorder". Psychiatric Genetics. 26 (6): 287-292. doi:10.1097/YPG. ... 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12)". Cytogenetics and Cell ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, LRR proteins, All ... there has been a recent study that found that this gene was nominally associated with panic disorder. GRCh38: Ensembl release ...
... the disorder is located on the X chromosome. It is mainly due to mutations in the GPR143 gene(OA1), located at Xp22.3; this ... This gene is located on the X-chromosome at Xp22.3, which is also where TBL1 gene is found. The physical proximity of the two ... The gene involved is located very closely to the OA1 gene loci on the X chromosome. Aicardi Syndrome, characterised by retinal ... "Albinism, Ocular Type 1 , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2021-04-01. Winship, Ingrid M.; ...
Kevles, Daniel J. (1985). "Human Chromosomes--Down's Disorder and the Binder's Mistakes" (PDF). Engineering and Science: 9. T. ... Human Chromosome Number, Nature, retrieved April 24, 2014 Gartler, Stanley (2006). "The Chromosome Number in Humans: A Brief ... Tjio, Joe Hin; Levan, Albert (May 1956), "The Chromosome Number of Man", Hereditas, 42 (1-2): 723-4, doi:10.1111/j.1601- ... Unger, Lawrence; Blystone, Robert (1996). "Paradigm Lost: The Human Chromosome Story" (PDF). Bioscene. Archived from the ...
"A canine chromosome 7 locus confers compulsive disorder susceptibility". Molecular Psychiatry. 15 (1): 8-10. doi:10.1038/mp. ... One study also found that OCD has a high comorbidity with other disorders, such as generalized anxiety disorder (GAD). Dogs who ... "Obsessive-compulsive disorder and the risk of subsequent mental disorders: A community study of adolescents and young adults". ... Autism Spectrum Disorder (ASD) has also been known to develop early in life and a common symptom is repetitive behaviours. It ...
An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of ... The 23rd pair of chromosomes are the sex chromosomes. Typical females have two X chromosomes, while typical males have one X ... Most cells in the human body have 23 pairs of chromosomes, or a total of 46 chromosomes. (The sperm and egg, or gametes, each ... But sometimes, the whole pair of chromosomes will end up in one gamete, and the other gamete will not get that chromosome at ...
Unique Rare Chromosome Disorder Support Group. For voluntary services to People with a Chromosome Disorder and their Families. ...
2009).Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev. 15(4): 328-332. ... Y chromosome variations and other rare disorders to reach their optimal outcome. These personalized recommendations are based ... Early Identification of Infants and Toddlers At Risk for Autism Spectrum Disorder (ASD) and Developmental Language Disorder ( ... The resulting chromosomes (47 or more) may impact a child's neurodevelopment and cognition. Twenty-one babies born each day ...
"Evidence of association between bipolar disorder and Citron on chromosome 12q24". Molecular Psychiatry. 10 (9): 807-9. doi: ... Portal: Biology (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 12, ...
HDL3 is a rare, autosomal recessive disorder linked to chromosome 4p15.3. It has only been reported in two families, and the ... Autosomal dominant disorders, Trinucleotide repeat disorders, Huntington's disease). ... Other neurogenetic disorders can cause an HD-like or HD phenocopy syndrome but are not solely defined as HDL syndromes. The ... brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia and mitochondrial diseases. ...
"A possible vulnerability locus for bipolar affective disorder on chromosome 21q22. 3." Nature Genetics 8, no. 3 (1994): 291-296 ... "The use of lithium in affective disorders, III: a double-blind study of prophylaxis in bipolar illness."American Journal of ... These concepts have been reflected in the Diagnostic and Statistical Manual of Mental Disorders (DSM) since the 1990s. Since ... Mania: A Short History of Bipolar Disorder David Healy, JHU Press, 29 Dec 2010 Lithium: From Introduction to Public Awareness. ...
"Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus". J. Med. Genet. 40 (1): 37-41. doi: ... Chromosome 13q31-q33, however, has not been seen to correspond to any known existing gene or locus responsible for congenital ... The molecular basis of many of these other disorders has been thoroughly established and in some cases a genetic locus has been ... Pathological symptoms of the disorder may appear within the first 1-2 years of life although time of onset varies greatly among ...
... of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is ... Structural variation of chromosomes in autism spectrum disorder Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg. ... of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is ... Our most compelling result discovered CNV at 16p11.2 (p = 0.002) (with characteristics of a genomic disorder) at approximately ...
Donate now to increase awareness and research into chromosome disorders. Chromosome Disorder Outreach is a 501(c)(3) non-profit ... You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization. How much would you like to donate ... Chromosome Disorder Outreach, Inc.. P.O. Box 724. Boca Raton, FL 33429-0724. [email protected] ... Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. ...
Donate now to increase awareness and research into chromosome disorders. Chromosome Disorder Outreach is a 501(c)(3) non-profit ... You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization. How much would you like to donate ... Chromosome Disorder Outreach, Inc.. P.O. Box 724. Boca Raton, FL 33429-0724. [email protected] ... Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. ...
Heart surgery could benefit some babies with chromosome disorders. Author Patricia HannonPublished on October 23, 2017. April ... are born with a third copy of a chromosome -- in this case babies with trisomy 13 or trisomy 18. ... for children with Down syndrome to undergo surgery to repair heart defects that are frequently associated with the disorder. ...
Prader-Willi Research Foundation Australia (PWRFA) founder and CEO Kath Jones announced the chromosome 15 disorders biobank ... Centre of Research Excellence in Neuromuscular Disorders * NHMRC Centre of Research Excellence for Pneumococcal Disease Control ... Centre of Research Excellence in Neuromuscular Disorders. *NHMRC Centre of Research Excellence for Pneumococcal Disease Control ... children and adolescents affected by genetic diseases caused by faulty regions of chromosome 15.. "The clinical data will ...
... they have one X and two Y chromosomes, making 47 in all. ... instead of 46 chromosomes including one X and one Y chromosome ... Unique - XYY: Understanding Chromosome Disorders. Article Title: Unique - XYY. Authors: Unique - Rare Chromosome Disorder ... instead of 46 chromosomes including one X and one Y chromosome, they have one X and two Y chromosomes, making 47 in all. The ... The great majority of boys and men with an extra Y chromosome are never aware of it, because they do not have symptoms that ...
chromosome 14q32. Introduction. Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 ... Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published ... Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published ... Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss ...
The defect was also corrected by replacing the Y chromosome with an X chromosome. Chromosome transplanted clones maintained in ... Chromosome transplantation as a novel approach for correcting complex genomic disorders. Marianna Paulis, Alessandra Castelli, ... The approach here proposed, with some modifications, might be used to cure various disorders due to other X chromosome ... Chromosome transplantation, defined as the perfect replacement of an endogenous chromosome with a homologous one, has the ...
Learn and reinforce your understanding of Disorders of sex chromosomes: Pathology review. ... Disorders of sex chromosomes: Pathology review Videos, Flashcards, High Yield Notes, & Practice Questions. ... Now, individuals with sex chromosome disorders have aneuploidy, meaning that theres a missing or extra sex chromosome. Most ... both Hadas and Noam seem to have some sort of disorder of sex chromosomes. Now, humans typically have 23 pairs of chromosomes, ...
Fragile X with Reflex and Chromosome Analysis Blood Test FAQ ... Question 3. What chromosome disorders does this assay identify? ... Question 4. What genetic disorders cannot be detected by this assay? The chromosome assay cannot detect ... Question 8. My patient has a developmental disorder. Chromosome analysis and fragile X studies were reported as normal. Are ... If a full mutation is detected, individuals with 1 X chromosome would be expected to have FXS; individuals with 2 X chromosomes ...
Australias first chromosome 15 disorders biobank. By Source Kids on October 8, 2020. ... Prader-Willi Research Foundation Australia (PWRFA) founder and CEO Kath Jones announced the chromosome 15 disorders biobank ... children and adolescents affected by genetic diseases caused by faulty regions of chromosome 15. ... in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, ...
Sex Chromosome Disorders of Sex Development - 20 Studies Found. Status. Study Active, not recruiting. Study Name: Aneuploidies ... Y-chromosome Micro. Date: 2014-02-10. Interventions: *Drug: 13-cis retinoic acid Acc ... Condition: Male Sterility Due to Y-chromosome Deletions. Date: 2015-08-11. ... in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions. ...
Home » Papers » Prenatal Diagnosis » PRENATAL DIAGNOSIS OF CHROMOSOME DISORDERS IN TUNISIAN POPULATION# ... The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders we have to promote ...
People with the rare chromosome disorders Turner syndrome and Klinefelter syndrome differ in the expression of circular RNA. ... Circular RNA plays a key role in rare chromosome disorders. Breaking new ground 18. okt 2022 3 min Clinical Professor Claus H. ... People with the rare chromosome disorders Turner syndrome and Klinefelter syndrome differ in the expression of circular RNA. ... Females born with one less X chromosome have Turner syndrome and appear as females. Males born with an extra X chromosome have ...
Mary Kugler, R.N. (2005-08-20). "Chromosome 16 Disorders". About.com:Rare Diseases. About, Inc. Archived from the original on ... Normally humans have 2 copies of chromosome 16, one inherited by each parent. This chromosome represents almost 3% of all DNA ... It is not possible for a child to be born alive with an extra copy of this chromosome present in all cells (full trisomy 16). ... This happens when only some of the cells in the body contain the extra copy of chromosome 16. Some of the consequences include ...
Overview of Chromosome and Gene Disorders - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - ... Chromosome abnormalities can affect any chromosome, including the sex chromosomes Sex chromosomes Genes are segments of ... Chromosome abnormalities (See also Chromosomal abnormalities Chromosomal abnormalities Genetic disorders are disorders caused ... Trisomy 18 caused by an extra chromosome 18. Infants... read more and certain other chromosome disorders but is not diagnostic ...
Learn and reinforce your understanding of Disorders of sex chromosomes: Pathology review. ... Disorders of sex chromosomes: Pathology review Videos, Flashcards, High Yield Notes, & Practice Questions. ... Now, individuals with sex chromosome disorders have aneuploidy, meaning that theres a missing or extra sex chromosome. Most ... both Hadas and Noam seem to have some sort of disorder of sex chromosomes. Now, humans typically have 23 pairs of chromosomes, ...
Genome scan for loci predisposing to anxiety disorders using a novel multivariate approach: strong evidence for a chromosome 4 ... Several anxiety disorders--including social phobia, agoraphobia, and simple phobia--in addition to panic disorder segregate in ... Our findings support the notion that the major anxiety disorders, including phobias and panic disorder, are complex traits that ... One region on chromosome 4q31-q34, at marker D4S413 (with multipoint and single-point nominal P values , .00001), showed strong ...
... and outcome of cases with either apparently balanced de novo rearrangements or de novo supernumerary marker chromosomes ... Chromosome Aberrations* / epidemiology * Chromosome Aberrations* / genetics * Chromosome Disorders* * Female * Genetic Markers ... De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance ... distribution of breakpoints among chromosomes was not as would be expected strictly on the basis of length. Most breaks were ...
Donate to Unique, Rare Chromosome Disorder Support Group with every Birthday Card, Christmas Card, Easter Card, Thank You Card ... informing and networking with anyone affected by a rare chromosome disorder or a single gene disorder associated with learning ... Send Personalised Charity Cards & eCards supporting Unique, Rare Chromosome Disorder Support Group. .bg::before {content: " "; ... Rare Chromosome Disorder Support Group perform every day.. Anniversary Cards & eCards ...
Newborn Screening for Sex Chromosome Disorders SBC: JS GENETICS, LLC Topic: N/A ... or portions of an X-chromosome is deleted. Phenotypic features include primary hypogonadism, renal abnormalities, and profound ... Antipsychotic drugs have revolutionized the treatment of schizophrenia and psychotic disorders but a debilitating side-effect ...
They are thought to be the only people in the world with a chromosome disorder so unique that there is no name for it. ... Three-year-old Benjamin has a chromosome disorder so rare the only other recorded case is his big sister Lily, five.. The ... the family has been paired with four people in America that have similar chromosome disorders. ... which comprised a large section of her maternal chromosome 21 and a shorter portion of the maternal chromosome 16. ...
TEST: HEMATOLOGIC DISORDERS BONE MARROW/BONE CORE CHROMOSOME ANALYSIS Purpose of Test: To identify any acquired chromosome ... TEST: CONGENITAL DISORDERS PERIPHERAL BLOOD CHROMOSOME ANALYSIS Purpose of Test: To identify chromosome abnormalities that can ... TEST: CONGENITAL DISORDERS TISSUE/SKIN BIOPSY CHROMOSOME ANALYSIS Purpose of Test: To identify chromosome abnormalities that ... Chromosome abnormalities constitute a major category of medical genetic disorders. In a clinical setting, chromosome ...
Unique - The Rare Chromosome Disorder Support Group Support for people with rare chromosome disorders ... Abnormal numbers of chromosomes or chromosome sets, called aneuploidy, may be lethal or may give rise to genetic disorders.[51] ... Human chromosomes[edit]. Chromosomes in humans can be divided into two types: autosomes (body chromosome(s)) and allosome (sex ... Chromosome numbers in other organisms Species. Large. chromosomes. Intermediate. chromosomes. Microchromosomes Trypanosoma ...
which means one copy of the altered chromosome in each cell is sufficient to cause the disorder. ... from a specific region in the long (q) arm of chromosome 2. The deletions occur near the end of the chromosome at a location ... Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4, is likely to account for many of the ... Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am ...
This guideline covers recognising and diagnosing autism spectrum disorder in children and young people from birth up to 19 ... Medical or genetic problems and disorders:. * epilepsy and epileptic encephalopathy. * chromosome disorders ... children or young people with a complex coexisting mental health disorder (for example ADHD, conduct disorder, a possible ... factors and neurodevelopmental disorders that increase the likelihood of a diagnosis of autism spectrum disorder. ...
... which will bring together parents and carers of children and adults with rare chromosome disorder (RCD) or rare gene disorder ( ... Medicine and Me: Living with a rare chromosome or gene disorder Join us for this educational conference, run in association ...
Unique - The Rare Chromosome Disorder Support Group. More information GERMANY. Nordrhein-Westfalen-BONN ...
Search a list of tests we offer categorized by disorder. ... SCID and T Cell Disorders Panel , Chromosome Breakage Disorders ... Ataxia-Telangiectasia: Chromosome Breakage Disorders Panel , Test Requisition. *Bloom syndrome: Chromosome Breakage Disorders ... Chromosome Breakage Disorders Panel , Test Requisition. *DNA ligase IV deficiency / LIG4 syndrome:Chromosome Breakage Disorders ... Cernunnos/NHEJ1 deficiency: SCID and T Cell Disorders Panel , Chromosome Breakage Disorders Panel , Test Requisition ...
Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13 ... Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. ... The disorder is characterized by longitudinal streaks, thinning, and impaired formation of the nail plates leading to increased ... The analysis of 150 microsatellite markers on various chromosomes mapped the isolated congenital nail dysplasia gene to the 6 ...
  • 13q34 deletions - or deletions at the terminal segment of the long arm of chromosome 13 - are very rare. (chromodisorder.org)
  • Chromosome 5q14.3 deletions - deletions within a region of the long arm of chromosome 5 - cause intellectual disability, epilepsy, dysmorphisms (abnormal differences in body structure), structural brain abnormalities, and hypotonia (low muscle tone. (chromodisorder.org)
  • Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. (bmj.com)
  • Patients with 18q deletions frequently suffer from autoimmune disorders, recurrent infections, and allergy due to immune dysregulation presenting with variable antibody deficiencies and T-regulatory cell deficiency (CD4+CD25+CD127lowFOXP3+). (nih.gov)
  • The deletions occur near the end of the chromosome at a location designated 2q37. (medlineplus.gov)
  • We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions. (dspace-express.com)
  • TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. (nih.gov)
  • Singleton deletions throughout the genome increase risk of bipolar disorder. (medscape.com)
  • Chromosomal abnormalities Genetic disorders are disorders caused by abnormalities in one or more genes or chromosomes. (msdmanuals.com)
  • Larger abnormalities may be visible with a microscope in a test called chromosome analysis or karyotyping. (msdmanuals.com)
  • Smaller chromosome abnormalities can be identified using specialized genetic tests that scan a person's chromosomes for extra or missing parts. (msdmanuals.com)
  • Numerical abnormalities occur when a person has one or more extra copies of a chromosome (for example, one extra is trisomy, and two extra is tetrasomy) or is missing a chromosome (monosomy). (msdmanuals.com)
  • The study of chromosomes and their abnormalities is known as cytogenetics. (wakehealth.edu)
  • Chromosome abnormalities constitute a major category of medical genetic disorders. (wakehealth.edu)
  • To identify chromosome abnormalities detectable by routine cytogenetic analysis. (wakehealth.edu)
  • To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. (wakehealth.edu)
  • Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4 , is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). (medlineplus.gov)
  • PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
  • Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. (healthywomen.org)
  • Every normal human cell, except for sperm and egg cells, has 23 pairs of chromosomes for a total of 46 chromosomes. (msdmanuals.com)
  • are one of the 23 pairs of chromosomes. (msdmanuals.com)
  • Except for certain cells (for example, sperm and egg cells and red blood cells), the cell nucleus contains 23 pairs of chromosomes. (msdmanuals.com)
  • Most people have 23 pairs of chromosomes in the nucleus of each cell. (healthywomen.org)
  • The approach here proposed, with some modifications, might be used to cure various disorders due to other X chromosome aberrations in induced pluripotent stem (iPS) cells derived from affected patients. (oncotarget.com)
  • It is well known that chromosome microdeletions or microduplications in several areas (1q21.1, 3q29, 15q11, 15q13, 16p11.2, etc) are associated with a wide range. (chromodisorder.org)
  • Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. (nih.gov)
  • Microarray oligonucleotide comparative genomic hybridization (aCGH) (Agilent, Santa Clara, CA, USA) was performed in all patients to identify size and location of chromosome 18 deletion. (nih.gov)
  • Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. (medlineplus.gov)
  • Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. (dspace-express.com)
  • They found that Ellie-Rose has Chromosome 2P Deletion and Chromosome 3P deletion. (gofundme.com)
  • Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
  • Collins believes new research might help change attitudes about performing surgery for other babies who, like Down syndrome babies, are born with a third copy of a chromosome -- in this case babies with trisomy 13 or trisomy 18 . (stanford.edu)
  • Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. (wikipedia.org)
  • It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy. (wikipedia.org)
  • It is not possible for a child to be born alive with an extra copy of this chromosome present in all cells (full trisomy 16). (wikipedia.org)
  • Mosaic trisomy 16, a rare chromosomal disorder, is compatible with life, therefore a baby can be born alive. (wikipedia.org)
  • Chromosome 14 harbours an imprinted locus at 14q32. (bmj.com)
  • There is one known imprinted locus on human chromosome 14, at 14q32. (bmj.com)
  • Genome scan for loci predisposing to anxiety disorders using a novel multivariate approach: strong evidence for a chromosome 4 risk locus. (qxmd.com)
  • Our findings support the notion that the major anxiety disorders, including phobias and panic disorder, are complex traits that share at least one susceptibility locus. (qxmd.com)
  • Chromosome 18 was chosen because a previous genome-screening linkage study of two Costa Rican families had suggested a BP-I locus on this chromosome. (umn.edu)
  • Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3. (medscape.com)
  • The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q. (medscape.com)
  • A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. (medscape.com)
  • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (medscape.com)
  • The first biobank in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi Syndrome and Angelman Syndrome, will be established at the Murdoch Children's Research Institute (MCRI ). (edu.au)
  • For the first time Australia will have a purpose-built biobank of different biological samples from people with genetic diseases cause by changes to genes on chromosome 15," Ms Jones said. (edu.au)
  • It was once rare for children with Down syndrome to undergo surgery to repair heart defects that are frequently associated with the disorder. (stanford.edu)
  • Prader-Willi Research Foundation Australia (PWRFA) founder and CEO Kath Jones announced the chromosome 15 disorders biobank project today, in collaboration with MCRI's Associate Professor David Godler and Professor David Amor and the Foundation for Angelman Syndrome Therapeutics (FAST ) Chairperson Meagan Cross. (edu.au)
  • Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 in a report of a male aged 18 years with maternal uniparental disomy of chromosome 14. (bmj.com)
  • DESCRIPTION (provided by applicant): Turner syndrome (TS) is the most common genetic problem effecting women, with an incidence of 1 in 1,500 to 2,000 live female births and occurs when an entire, or portions of an X-chromosome is deleted. (sbir.gov)
  • As a result of the chromosome imbalance, Lily and Benjamin have global development delay, learning disabilities and hypermobility with their condition most similar to Down's syndrome . (scotsman.com)
  • Turner syndrome is when one of a female's two X chromosomes is abnormal or missing. (kidshealth.org)
  • Here, we used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome. (dspace-express.com)
  • Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. (nih.gov)
  • Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. (rarediseases.org)
  • Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. (medscape.com)
  • or no chromosome from that parent and one from the other parent, resulting in monosomy. (osmosis.org)
  • This occurs when all of the cells in the body contain an extra copy of chromosome 16. (wikipedia.org)
  • Rarely, an affected individual inherits a copy of chromosome 2 with a deleted segment from an affected parent. (medlineplus.gov)
  • The imprinted region on chromosome 14q32 and expression of imprinted genes on the maternal allele (upper) and paternal allele (lower) for six genes. (bmj.com)
  • Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder. (medscape.com)
  • Chromosome transplantation, defined as the perfect replacement of an endogenous chromosome with a homologous one, has the potential of curing this kind of disorders. (oncotarget.com)
  • Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. (wakehealth.edu)
  • Most often, this results from nondisjunction, which can occur in the egg or sperm cell during meiosis 1 or 2, where a chromosome pair or sister chromatid respectively doesn't split apart. (osmosis.org)
  • Sperm and egg cells have only one of each pair of chromosomes for a total of 23. (msdmanuals.com)
  • if the sperm with the Y chromosome fertilizes an egg, the baby will be male. (encyclopedia.com)
  • Thus, OP exposure could interfere with sperm chromosome segregation and increase the risk for genetic syndromes, such as Turner's. (cdc.gov)
  • These chromosomes determine sex characteristics, such as if you produce eggs or sperm, have a penis or a vagina, and many other traits. (healthline.com)
  • Now a glimmer of hope has been offered to parents Kenny, 42, and Crystal Arnott, 38, after they signed up to an international database that helps track down and pair families with extremely rare chromosome and gene disorders. (scotsman.com)
  • Isolated congenital nail dysplasia is an autosomal dominant disorder recently observed in a large family from southern Germany. (mdc-berlin.de)
  • In order to localize chromosomally the gene underlying isolated congenital nail dysplasia, linkage to the known keratin gene cluster regions on chromosomes 12q12 and 17q21 was ruled out first. (mdc-berlin.de)
  • The analysis of 150 microsatellite markers on various chromosomes mapped the isolated congenital nail dysplasia gene to the 6 cM interval between markers at D17S926 and D17S1528 on chromosome 17p13. (mdc-berlin.de)
  • Multifactorial disorders are usually categorized as congenital malformations , such as neural tube defect, cleft lip and palate, or diseases with a genetic predisposition , such as some chronic, noncommunicable diseases. (who.int)
  • Because of their historical association, this report will consider both genetic disorders and congenital malformations. (who.int)
  • In the developed world, genetic and congenital disorders are the second most common cause of infant and childhood death, occurring with a birth prevalence of 25-60 per 1000, with the higher figure being derived from fuller sets of data. (who.int)
  • Data generated by the biobank will be analysed using advanced artificial intelligence software to identify biological pathways that are disrupted in these disorders, with the aim of developing new treatments. (edu.au)
  • Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
  • In addition, you perform a karyotype analysis on his cells and find 47 chromosomes, among which there's two X chromosomes and one Y chromosome. (osmosis.org)
  • A blood test shows low estrogen levels and high gonadotropins, and a karyotype analysis reveals only 45 chromosomes, with one X chromosome. (osmosis.org)
  • Genomic disorders resulting from large rearrangements of the genome remain an important unsolved issue in gene therapy. (oncotarget.com)
  • There are 2 sex chromosomes, called X and Y. Females typically have two X chromosomes (XX) and males typically have one X chromosome and one Y chromosome (XY). (msdmanuals.com)
  • Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. (dspace-express.com)
  • Females have two X chromosomes, while males have one X and one Y chromosome . (encyclopedia.com)
  • Often this requires input from a clinical geneticist or genetic counselor with experience in this genetic disorder to supply the most recent and accurate information about the disorder and discuss genetic testing options or treatment plans. (rarediseases.org)
  • This clinical state is characterized by elevated basal serum FSH levels in association with disordered menstrual cycles as demonstrated by oligomenorrhea, polymenorrhea, or metrorrhagia. (medscape.com)
  • The diagnosis of bipolar disorder, or manic-depressive illness (MDI), is based on the patient's history and clinical course. (medscape.com)
  • VA/DoD clinical practice guideline for management of bipolar disorder in adults. (medscape.com)
  • Normally humans have 2 copies of chromosome 16, one inherited by each parent. (wikipedia.org)
  • Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. (healthywomen.org)
  • [4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
  • Additionally, children with XX chromosomes have a 50% chance of inheriting two copies of affected genes and having hemophilia. (healthline.com)
  • [5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
  • out of which 22 pairs are autosomal, and 1 pair consists of sex choromosomes, which can be X or Y. Generally, an individual with two X chromosomes, or 46,XX is considered to be genetically female. (osmosis.org)
  • One of each chromosome pair is inherited from the mother and the other is inherited from the father. (healthywomen.org)
  • The history of autoimmune disorders, severe and/or recurrent infections, and symptoms of allergy were noted. (nih.gov)
  • Autoimmune disorders were present in 14/27 (51.8%) of the cohort. (nih.gov)
  • Estimates of the population prevalence and inheritance patterns of recurrent copy number variants (CNVs) associated with neurodevelopmental disorders are lacking. (chromodisorder.org)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • About 25 percent of people with this condition have autism spectrum disorder , a developmental condition that affects communication and social interaction. (medlineplus.gov)
  • Otto Bütschli was the first scientist to recognize the structures now known as chromosomes. (wikipedia.org)
  • Both hemophilia A and B are inherited in the same way, because both the genes for factor VIII and factor IX are located on the X chromosome (chromosomes are structures within the body's cells that contain the genes). (cdc.gov)
  • The great majority of boys and men with an extra Y chromosome are never aware of it, because they do not have symptoms that lead to a diagnosis. (genetic.org)
  • Additionally, the field of cytogenetics is important in the diagnosis and workup of patients with hematologic/oncologic disorders. (wakehealth.edu)
  • UNIQUE help families like ours by supporting us through the diagnosis and can find other family's in their records who have a person with the same disorder. (gofundme.com)
  • Here's how hemophilia is inherited, who is more likely to have the disorder, and what tests may help with diagnosis. (healthline.com)
  • Some genetic disorders are hereditary and others are spontaneous. (msdmanuals.com)
  • Hereditary genetic disorders are. (msdmanuals.com)
  • Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
  • Chromosomes are made up of DNA that contain our body's construction plans. (kidshealth.org)
  • Now, individuals with sex chromosome disorders have aneuploidy , meaning that there's a missing or extra sex chromosome. (osmosis.org)
  • Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
  • Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)
  • Each issue contains detailed and new information on rare chromosome disorders. (chromodisorder.org)
  • Every personalised card or e-card you send will help support and increase the amazing amount of work Unique, Rare Chromosome Disorder Support Group do. (makingadifference.cards)
  • Unique is an international group, supporting, informing and networking with anyone affected by a rare chromosome disorder or a single gene disorder associated with learning disability and developmental delays, and with any interested professionals. (makingadifference.cards)
  • Three-year-old Benjamin has a chromosome disorder so rare the only other recorded case is his big sister Lily, five. (scotsman.com)
  • Join us for this educational conference, run in association with the charity Unique , which will bring together parents and carers of children and adults with rare chromosome disorder (RCD) or rare gene disorder (RGD) to meet each other, share experiences and hopefully develop new friendships and mutual support networks. (rsm.ac.uk)
  • Alishia Jade is organizing this fundraiser to benefit Unique - Rare Chromosome Disorder Support Group. (gofundme.com)
  • So on the 22nd June (Rare Chromosome and Genetic Disorders Day) myself, Ellie-Rose and her Nanny will be doing a 30 minute walk to raise money for UNIQUE. (gofundme.com)
  • So we can contact those families to get more understanding as these disorders are so very rare. (gofundme.com)
  • Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. (healthywomen.org)
  • Forty-eight patients with BP-I were genotyped for markers spaced at ~6-cM intervals across chromosome 18. (umn.edu)
  • Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. (medscape.com)
  • Wilhelm Roux suggested that each chromosome carries a different genetic configuration , and Boveri was able to test and confirm this hypothesis. (wikipedia.org)
  • This means that if your X chromosome carries the genes for hemophilia, you will have the condition. (healthline.com)
  • We conducted a 10-centimorgan linkage autosomal genome scan in a set of 19 extended American pedigrees (219 subjects) ascertained through probands with panic disorder. (qxmd.com)
  • Linkage disequilibrium (LD) analysis has been promoted as a method of mapping disease genes, particularly in isolated populations, but has not yet been used for genome-screening studies of complex disorders. (umn.edu)
  • The orphan G protein-coupled receptor 78 (GPR78) gene lies within a region of chromosome 4p where we have previously shown linkage to bipolar affective disorder (BPAD) in a large Scottish family. (ox.ac.uk)
  • Assessment of the effect of age at onset on linkage to bipolar disorder: evidence on chromosomes 18p and 21q. (medscape.com)
  • Affected people typically have no history of the disorder in their family. (medlineplus.gov)
  • A female can also have hemophilia if she inherits hemophilia alleles from both of her parents or if she inherits one hemophilia allele and her other X chromosomes is missing or does not work properly. (cdc.gov)
  • As defined by the World Health Organization, ovarian insufficiency can be caused by a primary disorder in the ovary or it can occur as a result of secondary causes. (medscape.com)
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
  • Hemophilia is a bleeding disorder in which blood does not clot properly. (cdc.gov)
  • Thus, if a male has a hemophilia allele on his only X chromosome, he will have the disorder. (cdc.gov)
  • A female with a hemophilia allele on one X chromosome usually has a normal allele on her other X chromosome that can produce normal clotting factor, so she has some protection against having hemophilia. (cdc.gov)
  • A father who has hemophilia passes his only X chromosome down to all of his daughters, so they will always get his hemophilia allele and be heterozygous (carriers). (cdc.gov)
  • Hemophilia is a blood clotting disorder that can be inherited. (healthline.com)
  • Caused by changes in the X chromosome, hemophilia is an autosomal recessive genetic disorder. (healthline.com)
  • Hemophilia is a genetic disorder that affects the clotting factors in the blood. (healthline.com)
  • Hemophilia A , also called factor VIII deficiency, and hemophilia B , also called factor IX deficiency, are inherited on the X chromosome in an autosomal recessive pattern . (healthline.com)
  • This means that you must inherit one affected X chromosome to have the condition - in this case, hemophilia. (healthline.com)
  • If you have two X chromosomes, you may be hemophilia carriers. (healthline.com)
  • You must inherit two affected X chromosomes to develop it, making hemophilia rarer in individuals with XX chromosomes. (healthline.com)
  • If the XY parent has hemophilia and passes on the affected gene, each of their XY children has a 0% chance of inheriting the disorder. (healthline.com)
  • We present results of a study to investigate the feasibility of LD methods for genome screening using a sample of individuals affected with severe bipolar mood disorder (BPI), from an isolated population of the Costa Rican central valley. (umn.edu)
  • Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. (ox.ac.uk)
  • Bowden C, Singh V. Long-term management of bipolar disorder. (medscape.com)
  • 69. Management of Bipolar Disorder Working Group. (medscape.com)
  • Price AL, Marzani-Nissen GR. Bipolar disorders: a review. (medscape.com)
  • Diagnostic features, prevalence, and impact of bipolar disorder. (medscape.com)
  • Heritability of bipolar spectrum disorders. (medscape.com)
  • Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. (medscape.com)
  • Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (medscape.com)
  • Here we report the first successful case of chromosome transplantation by replacement of an endogenous X chromosome carrying a mutation in the Hprt genewith a normal one in mouse embryonic stem cells (ESCs), correcting the genetic defect. (oncotarget.com)
  • The defect was also corrected by replacing the Y chromosome with an X chromosome. (oncotarget.com)
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
  • Some disorders, such as Huntington disease, are autosomal dominant. (healthywomen.org)
  • The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
  • Several anxiety disorders--including social phobia, agoraphobia, and simple phobia--in addition to panic disorder segregate in these families. (qxmd.com)
  • Given the substantial comorbidity between anxiety disorders and their probable shared genetic liability, it is clear that this method discards a considerable amount of information. (qxmd.com)
  • Associate Professor Godler said the facility would help better diagnose and treat newborns, children and adolescents affected by genetic diseases caused by faulty regions of chromosome 15. (sourcekids.com.au)
  • Infantile hypotonia, which is often severe, is a near universal feature of the disorder. (rarediseases.org)
  • The impact of the extra Y chromosome is extremely variable. (genetic.org)
  • Recently more than 700 published studies of the outcomes of having an extra sex chromosome were identified (Leggett 2010). (genetic.org)
  • The Association for X and Y Chromosome Variations (AXYS) is dedicated to addressing the needs of those affected by one or more extra X and/or Y chromosomes. (genetic.org)
  • The risk of abnormality for extra nonsatellited marker chromosomes was 14.7% (n = 68), and that for satellited marker chromosomes was 10.9% (n = 55). (nih.gov)
  • Five-year-old Lily Arnott and her brother Benjamin, 3, from Penicuik , were both born with an extra chromosome, made up of uneven parts of chromosomes 21 and 16. (scotsman.com)
  • Extra or missing pieces of chromosomes can have a significant impact on the health of an individual. (healthywomen.org)
  • They are thought to be the only people in the world with a chromosome disorder so unique that there is no name for it. (scotsman.com)
  • On the other hand, an individual with one X and one Y chromosome, or 46,XY is genetically male. (osmosis.org)
  • In this article, we propose a new approach that considers panic disorder, simple phobia, social phobia, and agoraphobia as expressions of the same multivariate, putatively genetically influenced trait. (qxmd.com)