Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Sex Chromosomes
Chromosome Disorders
Chromosomes
Sex Chromosome Aberrations
Chromosome Mapping
X Chromosome
Y Chromosome
Chromosome Banding
Chromosomes, Human, X
Chromosome Aberrations
Chromosomes, Human, Y
Chromosomes, Plant
Silene
X Chromosome Inactivation
In Situ Hybridization, Fluorescence
Chromosomes, Human
Chromosomes, Human, Pair 1
Aneuploidy
Chromosomes, Human, Pair 21
Chromosomes, Artificial, Bacterial
Chromosome Painting
Chromosomes, Bacterial
Sex Characteristics
Chromosomes, Human, Pair 7
Meiosis
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Sex Chromatin
46, XY Disorders of Sex Development
Disorders of Sex Development
Encyclopedias as Topic
Sexual Development
Human Rights
46, XX Disorders of Sex Development
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (1/41)
Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities. (+info)X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. (2/41)
During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turner's syndrome (45,X), several highly polymorphic STR on the X chromosome are needed in order to reduce the likelihood that a normal female might be homozygous for all sequences and, consequently, that the test could fail to discriminate between samples retrieved from a Turner's and a normal female fetus. Here we report a new method for rapid and accurate detection of X chromosome copy number in prenatal samples that does not depend on STR heterozygosity. The test is based on QF-PCR amplification of the X-linked HPRT together with the autosomal D21S1411 used as internal control for quantification. In the course of this study, this assay allowed the prenatal diagnosis of a rare case of a normal female homozygous for four selected highly polymorphic X chromosome STR, as well as the assessment of the normal chromosome complement of a fetus homozygous for five chromosome 21 markers. (+info)Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. (3/41)
With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution. (+info)The genetic basis of infertility. (4/41)
Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered. (+info)Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. (5/41)
Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed. (+info)A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. (6/41)
This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions. (+info)49, XXXXY syndrome. (7/41)
49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing. (+info)Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies. (8/41)
We analysed chromosomes, conducted hormonal assays and screened genomic DNA of 34 patients with or without detectable Y chromosome for the presence/absence of SRY, PABY, DYS1, DYZ3 and DYZ1 loci and for mutations in the SRY gene. The samples studied represented cases of oligozoospermia, cryptorchidism, Swyer syndrome, Turner syndrome, male pseudohermaphroditism, XXY female syndrome, Klinefelter's syndrome, repeated abortion and instances of male infertility. Chromosomal constitutions and the level of hormones (FSH, LH, PRL, E2 and TSH) were found to be abnormal in several cases. A phenotypic female (P20) positive for all the Y-linked loci screened, showed mutations upstream of the HMG box in the SRY gene. In addition, one or more of the Y-linked loci were detected in several phenotypic females. Fluorescence in-situ hybridization of metaphase chromosomes and interphase nuclei of an aborted fetus with DYZ1 probe detected signals from normal to low levels to its complete absence confirming a complex Y chromosome mosaicism. Upon DNA analysis, the fetus was found to be positive for all the above-mentioned Y-linked loci. Organizational variation within the DYZ1 arrays and its correlation with recurrent spontaneous abortion may be followed-up in subsequent studies to substantiate this observation. This would augment genetic counselling to the affected couples. Prospects of this approach in the overall management of clinical cases with sex chromosome-related anomalies are discussed. (+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.
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.
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.
Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.
Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.
It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.
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.
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.
The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.
The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.
It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.
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.
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).
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.
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.
"Sex determination processes" refer to the series of genetic and biological events that occur during embryonic and fetal development which lead to the development of male or female physical characteristics. In humans, this process is typically determined by the presence or absence of a Y chromosome in the fertilized egg. If the egg has a Y chromosome, it will develop into a male (genetically XY) and if it does not have a Y chromosome, it will develop into a female (genetically XX).
The sex determination process involves the activation and repression of specific genes on the sex chromosomes, which direct the development of the gonads (ovaries or testes) and the production of hormones that influence the development of secondary sexual characteristics. This includes the development of internal and external genitalia, as well as other sex-specific physical traits.
It is important to note that while sex is typically determined by genetics and biology, gender identity is a separate construct that can be self-identified and may not align with an individual's biological sex.
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.
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.
"Silene" is a genus of flowering plants in the family Caryophyllaceae. It includes over 700 species that are found worldwide, particularly in temperate regions. These plants are commonly known as catchflies or campions. They are usually herbaceous and can vary in size from small annuals to large perennials. The flowers of Silene species are typically radial symmetrical with five distinct petals, often with notched or lobed ends. Some species have inflated calyxes that enclose the flower buds, giving them a bladder-like appearance.
However, it's important to note that "Silene" is not a medical term and does not have a direct application in human health or medicine.
X chromosome inactivation (XCI) is a process that occurs in females of mammalian species, including humans, to compensate for the difference in gene dosage between the sexes. Females have two X chromosomes, while males have one X and one Y chromosome. To prevent females from having twice as many X-linked genes expressed as males, one of the two X chromosomes in each female cell is randomly inactivated during early embryonic development.
XCI results in the formation of a condensed and transcriptionally inactive structure called a Barr body, which can be observed in the nucleus of female cells. This process ensures that females express similar levels of X-linked genes as males, maintaining a balanced gene dosage. The choice of which X chromosome is inactivated (maternal or paternal) is random and occurs independently in each cell, leading to a mosaic expression pattern of X-linked genes in different cells and tissues of the female body.
In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.
The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.
FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.
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.
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).
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 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.
Y-linked genes are a type of sex-limited gene that is located on the Y chromosome. These genes are only present in males because they are passed from father to son through the paternal Y chromosome during reproduction. They are not paired with any corresponding genes on the X chromosome, and therefore, they do not have a counterpart to complement their function.
Y-linked genes play an essential role in sex determination and male development. For example, the SRY gene, which is located on the Y chromosome, encodes a protein that triggers testis development during embryonic development. Other Y-linked genes are involved in spermatogenesis, the process of producing sperm cells.
Since Y-linked genes are not present in females, they do not have any direct impact on female traits or characteristics. However, mutations in Y-linked genes can cause various genetic disorders that affect male fertility and development, such as Klinefelter syndrome, XYY syndrome, and other sex chromosome aneuploidies.
X-linked genes are those genes that are located on the X chromosome. In humans, females have two copies of the X chromosome (XX), while males have one X and one Y chromosome (XY). This means that males have only one copy of each X-linked gene, whereas females have two copies.
X-linked genes are important in medical genetics because they can cause different patterns of inheritance and disease expression between males and females. For example, if a mutation occurs in an X-linked gene, it is more likely to affect males than females because males only have one copy of the gene. This means that even a single mutated copy of the gene can cause the disease in males, while females may be carriers of the mutation and not show any symptoms due to their second normal copy of the gene.
X-linked recessive disorders are more common in males than females because they only have one X chromosome. Examples of X-linked recessive disorders include Duchenne muscular dystrophy, hemophilia, and color blindness. In contrast, X-linked dominant disorders can affect both males and females, but females may have milder symptoms due to their second normal copy of the gene. Examples of X-linked dominant disorders include Rett syndrome and incontinentia pigmenti.
Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.
In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.
Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.
Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.
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.
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.
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.
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.
"Sex characteristics" refer to the anatomical, chromosomal, and genetic features that define males and females. These include both primary sex characteristics (such as reproductive organs like ovaries or testes) and secondary sex characteristics (such as breasts or facial hair) that typically develop during puberty. Sex characteristics are primarily determined by the presence of either X or Y chromosomes, with XX individuals usually developing as females and XY individuals usually developing as males, although variations and exceptions to this rule do occur.
I'm sorry for any confusion, but the term "platypus" is not a medical concept or condition. It is a type of mammal native to Australia, recognized by its unique appearance with a duck-like bill, webbed feet, and a body covered in dense, waterproof fur. If you have any questions about medical terminology or concepts, I'd be happy to help clarify!
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.
Chromosomes in insects are thread-like structures that contain genetic material, made up of DNA and proteins, found in the nucleus of a cell. In insects, like other eukaryotes, chromosomes come in pairs, with one set inherited from each parent. They are crucial for the inheritance, storage, and transmission of genetic information from one generation to the next.
Insects typically have a diploid number of chromosomes (2n), which varies among species. The chromosomes are present in the cell's nucleus during interphase as loosely coiled structures called chromatin. During cell division, they condense and become visible under the microscope as distinct, X-shaped structures called metaphase chromosomes.
The insect chromosome set includes autosomal chromosomes, which are identical in appearance and function between males and females, and sex chromosomes, which differ between males and females. In many insects, the males have an XY sex chromosome constitution, while the females have an XX sex chromosome constitution. The sex chromosomes carry genes that determine the sex of the individual.
Insect chromosomes play a vital role in various biological processes, including development, reproduction, and evolution. They are also essential for genetic research and breeding programs in agriculture and medicine.
Meiosis is a type of cell division that results in the formation of four daughter cells, each with half the number of chromosomes as the parent cell. It is a key process in sexual reproduction, where it generates gametes or sex cells (sperm and eggs).
The process of meiosis involves one round of DNA replication followed by two successive nuclear divisions, meiosis I and meiosis II. In meiosis I, homologous chromosomes pair, form chiasma and exchange genetic material through crossing over, then separate from each other. In meiosis II, sister chromatids separate, leading to the formation of four haploid cells. This process ensures genetic diversity in offspring by shuffling and recombining genetic information during the formation of gametes.
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.
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.
Sex chromatin, also known as the Barr body, is an inactive X chromosome found in the nucleus of female cells. In females, one of the two X chromosomes is randomly inactivated during embryonic development to ensure that the dosage of X-linked genes is equivalent between males (who have one X chromosome) and females (who have two X chromosomes). The inactive X chromosome condenses and forms a compact structure called a sex chromatin body or Barr body, which can be observed during microscopic examination of cell nuclei. This phenomenon is known as X-inactivation and helps to prevent an overexpression of X-linked genes that could lead to developmental abnormalities.
'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.
There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.
Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.
Disorders of Sex Development (DSD) are a group of conditions that occur when there is a difference in the development and assignment of sex characteristics. These differences may be apparent at birth, at puberty, or later in life. DSD can affect chromosomes, gonads, genitals, or secondary sexual characteristics, and can result from genetic mutations or environmental factors during fetal development.
DSDs were previously referred to as "intersex" conditions, but the term "Disorders of Sex Development" is now preferred in medical settings because it is more descriptive and less stigmatizing. DSDs are not errors or abnormalities, but rather variations in human development that require sensitive and individualized care.
The diagnosis and management of DSD can be complex and may involve a team of healthcare providers, including endocrinologists, urologists, gynecologists, psychologists, and genetic counselors. Treatment options depend on the specific type of DSD and may include hormone therapy, surgery, or other interventions to support physical and emotional well-being.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Sexual development is a multidimensional process that includes physical, cognitive, emotional, and social aspects. It refers to the changes and growth that occur in an individual from infancy to adulthood related to sexuality, reproduction, and gender identity. This process involves the maturation of primary and secondary sex characteristics, the development of sexual attraction and desire, and the acquisition of knowledge about sexual health and relationships.
Physical aspects of sexual development include the maturation of reproductive organs, hormonal changes, and the development of secondary sexual characteristics such as breast development in females and facial hair growth in males. Cognitive aspects involve the development of sexual knowledge, attitudes, and values. Emotional aspects refer to the emergence of sexual feelings, desires, and fantasies, as well as the ability to form intimate relationships. Social aspects include the development of gender roles and identities, communication skills related to sexuality, and the ability to navigate social norms and expectations around sexual behavior.
Sexual development is a complex and ongoing process that is influenced by various factors such as genetics, hormones, environment, culture, and personal experiences. It is important to note that sexual development varies widely among individuals, and there is no one "normal" or "correct" way for it to unfold.
I'm sorry for any confusion, but "Human Rights" is a social, political, and legal concept, rather than a medical one. Human rights are basic rights and freedoms to which all individuals are entitled, regardless of nationality, sex, ethnicity, religion, language, or any other status. They include civil and political rights, such as the right to life, liberty, and freedom of expression; as well as social, cultural and economic rights, like the right to participate in culture, the right to food, and the right to work and receive an education.
However, in the context of healthcare, human rights are crucial. The Universal Declaration of Human Rights recognizes the right to medical care and the right to enjoy the highest attainable standard of physical and mental health. Healthcare providers have a responsibility to respect and protect their patients' human rights, ensuring that they receive care without discrimination, that their privacy is protected, and that they are involved in decisions regarding their healthcare.
Violations of human rights can significantly impact an individual's health and well-being, making the promotion and protection of human rights a critical public health issue.
'46, XX Disorders of Sex Development' (DSD) is a medical term used to describe individuals who have typical female chromosomes (46, XX) but do not develop typical female physical characteristics. This condition is also sometimes referred to as 'Complete Androgen Insensitivity Syndrome' (CAIS).
Individuals with 46, XX DSD/CAIS have testes instead of ovaries, and they typically do not have a uterus or fallopian tubes. They usually have female external genitalia that appear normal or near-normal, but they may also have undescended testes or inguinal hernias. Because their bodies are insensitive to androgens (male hormones), they do not develop male physical characteristics such as a penis or facial hair.
Individuals with 46, XX DSD/CAIS are typically raised as females and may not become aware of their condition until puberty, when they do not menstruate or develop secondary sexual characteristics such as breasts. Treatment for this condition typically involves surgery to remove the undescended testes and hormone replacement therapy to promote the development of secondary sexual characteristics.
It's important to note that individuals with 46, XX DSD/CAIS can live healthy and fulfilling lives, but they may face unique challenges related to their gender identity, sexuality, and fertility. It is essential to provide these individuals with comprehensive medical care, emotional support, and access to resources and information to help them navigate these challenges.
I'm sorry for any confusion, but "Schools, Nursing" is not a recognized medical term or concept. It seems like there might be some misunderstanding or missing context in your request.
Nursing, as a profession, involves the provision of care to individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. Nursing education, therefore, typically takes place in schools of nursing, which are institutions dedicated to providing theoretical and practical education for future nurses.
If you're referring to a specific medical condition, treatment, or concept that you think might be related to "Schools, Nursing," could you please provide more context or clarify your question? I'd be happy to help with more information.
Disorders of sex development
Sex chromosome
Tetrasomy X
Patricia Jacobs
XYY syndrome
Genetics of aggression
Human genetics
Melvin M. Grumbach
BENTA disease
Ectrodactyly-ectodermal dysplasia-cleft syndrome
Mood swing
The Focus Foundation
Human genetic variation
Trisomy X
X-chromosome reactivation
Shirley Ratcliffe
Sex differences in medicine
Polysomy
Sexual anomalies
Fourth metacarpal bone
Sex-determining region Y protein
X chromosome
Aging brain
Hypertrichosis
XYYYY syndrome
Environmental impact of pesticides
Virtual karyotype
XXXYY syndrome
X-linked thrombocytopenia
Acetylserotonin O-methyltransferase
Haltlose personality disorder
Disorders of sex chromosomes: Pathology review: Video | Osmosis
Sex Chromosome Disorders Archives - RevelatoryTruths.blog
Clinical Trials : Sex Chromosome Disorders of Sex Development
Disorders of sex chromosomes: Pathology review: Video | Osmosis
Disorders of sex development - Wikipedia
Award Data | SBIR.gov
Recurrent Early Pregnancy Loss: Practice Essentials, Overview, Incidence
Scientists map sex chromosome evolution in pathogenic fungi
Unique - XYY: Understanding Chromosome Disorders - The Association for X and Y Chromosome Variations
Autosomal recessive: MedlinePlus Medical Encyclopedia
XSense sup reg sup Fragile X with Reflex and Chromosome Analysis Blood | Quest Diagnostics
Hypogonadism | Encyclopedia.com
New Study Sheds Light on Function of Sex Chromosomes in Turtles
Genetic landscape of autism spectrum disorder in Vietnamese children | Scientific Reports
Ataxia | Baylor Medicine
Dr Dianne Newbury - Oxford Brookes University
Key Q&A - HealthyWomen
10 Creepy Serial Killers Of The 19th Century - Listverse
Clinical Mimicry: Fabry Disease Masquerading as Lupus?
How Hemophilia is Inherited | CDC
Disorders of Sexual Differentiation Program - Children's Hospital of Orange County
Hemophilia and Kadyn - Rare Disease Day 2023
Sex Linked Disorders : Y-Linked Infertility, Fragile-X Syndrome and Duchenne's Muscular Dystrophy | Biology | JoVE
What Chromosome Is Turner Syndrome Found On? Causes & Symptoms
Scientists fully sequence human Y chromosome for the first time | CNN
Declan Murphy - King's College London
Cerebral Aneurysm | Johns Hopkins Medicine
Talking Glossary of Genetic Terms | NHGRI
7 Disorders Closely Related to Autism - Autism Research Institute
Genes35
- They found that during evolution, a reshuffling of DNA known as translocation brought together separate chunks of sex-determining genes onto a single chromosome, essentially mimicking the human X or Y chromosome. (phys.org)
- In the 1960's, Japanese-American geneticist and evolutionary biologist Susumu Ohno proposed a theory in which the genes determining sex first arose at various spots scattered across the entire genome , but over time were "captured" on the sex chromosomes. (phys.org)
- A schematic figure from the paper illustrates how recombination occurred at the centromere and then genes migrated and fused to leave Cryptococcus with just two sexes, when before it had many. (phys.org)
- In C. amylolentus , dozens of genes at two different locations on the chromosomes control what's called a tetrapolar, or four-part, mating system. (phys.org)
- The researchers sequenced the entire genome of C. amylolentus , mapping the location of all the genes as well as the centromeres on each of the organism's 14 chromosomes. (phys.org)
- Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological or other disorders. (newswise.com)
- But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (newswise.com)
- The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (newswise.com)
- developmental language disorders are genetic and is therefore caused (at least in part) by the genes passed on from parents to children. (brookes.ac.uk)
- Although there is strong evidence for the role of a genetic component in language disorder, we do not know which genes contribute to this disorder or how the inheritance of language problems work. (brookes.ac.uk)
- In most cases, it is likely that several genes combine to bring about a heightened risk of disorder. (brookes.ac.uk)
- The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. (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)
- 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)
- There are no genes for clotting factors on the Y chromosome. (cdc.gov)
- Genes have been identified on the Y chromosome that have been shown to be required for the prevention of cancer and cardiovascular disease," Walsh said via email. (cnn.com)
- Chromosomes are found in the cells of the human body and contain genes (or genetic information). (vcfsef.org)
- The autosomal genes basically are chromosomal genes situated on one of the body's sex chromosomes. (write-right.net)
- Chromosomes carry genes with great precision and fidelity between cell cycles, and from one generation to the next. (aber.ac.uk)
- It also shows how chromosomes provide the environment for the expression and recombination of genes, and how chromosomes underpin sex determination and the evolution of breeding systems. (aber.ac.uk)
- 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)
- Those may include: where the MECP2 mutation is located in the gene, how the individuals' sex chromosomes interact, and other genes can make the symptoms worse or protect from the effects of the mutation. (nih.gov)
- The genes code for different traits, such as eye color, body type, or male or female sex. (kidshealth.org)
- A genetic disorder happens when a gene (or genes) has a problem with its code, and this causes a health problem. (kidshealth.org)
- It shows where the genes are located on the chromosomes. (kidshealth.org)
- Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
- Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
- In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
- X-degenerate sequences are single copy and broadly expressed genes which were evolved from ancestral autosomes to generate sex chromosomes. (biomedcentral.com)
- Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)
- The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
- Chromosomes are structures within cells that contain DNA and many genes. (msdmanuals.com)
- The CLCN5 and OCRL genes are located on the X chromosome, which is one of the two sex chromosomes. (medlineplus.gov)
- The X chromosome carries genes that play roles in many body systems, including testis function, brain development, and growth. (medscape.com)
- Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
Females20
- Aromatase deficiency - A disorder which, in females, is characterized by androgen excess and estrogen deficiency, and can result in inappropriate virilization, though without pseudohermaphroditism (i.e., genitals are phenotypically appropriate) (with the exception of the possible incidence of clitoromegaly). (wikipedia.org)
- Females have two X chromosomes, while males have one X and one Y chromosome . (encyclopedia.com)
- In the case of the softshell turtles included in the study, the sex chromosomes are referred to as Z and W, and it's the females of the species who have mismatched, or ZW, chromosomes. (newswise.com)
- The study found that both sexes of softshell turtles double the activity of the Zs in early embryonic development, which fixes the expression imbalance in ZW females (twice Z expression now matches autosomal expression). (newswise.com)
- The exact frequency of Fragile X syndrome is unclear, but the CDC estimates that roughly 1.4 in 10,000 males and 0.9 in 10,000 females are affected by this disorder. (autism.org)
- Autosomal refers to the fact that the deletion is not found on the sex chromosomes and both males and females can be affected. (vcfsef.org)
- Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. (medicalxpress.com)
- This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. (medicalxpress.com)
- Because females have two X chromosomes and haemophilia is rare, the chance of a female having two defective copies of the gene is very low, so females are almost exclusively asymptomatic carriers of the disorder. (medicalxpress.com)
- It talks of how "females could have a poorer response to [] treatment", and talks of genetic differences between the sexes. (quackometer.net)
- And it goes on to say that neither sex or gender are not binary, despite the whole article being based on the binary differential experience of women and men, boy and girls, males and females to the course of cystic fibrosis and its treatments. (quackometer.net)
- Females with one gene variant associated with an X-linked recessive disorder typically have no or very mild signs or symptoms of the condition. (medlineplus.gov)
- The females in such organisms are homomorphic having the XX chromosomes while the males are heteromorphic and possess the XY chromosomes. (vedantu.com)
- So females form only one type of gametes (i.e. the gametes have only X chromosome) while the males form two types of gametes called angiosperms (22 + X) and gymnosperms (22 + Y). So only a mother can produce an abnormal gamete with XX chromosomes as the gamete produced by father can have only one X chromosome. (vedantu.com)
- Females appear to have a genetic predisposition toward reproducing the physiological reward produced by cocaine, suggesting sex chromosomes may influence habit formation. (sfn.org)
- 22 pairs of chromosomes are the same in males and females. (kidshealth.org)
- In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. (medlineplus.gov)
- Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. (medlineplus.gov)
- Turner syndrome (TS) is a common sex chromosome aneuploidy in females associated with various physical, cognitive, and socio-emotional phenotypes. (bvsalud.org)
- Pentasomy X is a rare disorder of the sex chromosomes, which only affects females and is characterized by the presence of five chromosomes "x" (49,xxxxx) instead of two (46,xx). (bvsalud.org)
Abnormal9
- An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. (medlineplus.gov)
- The importance of maintaining a proper balance is made evident by diseases caused by abnormal numbers of sex chromosomes, including Klinefelter syndrome and Turner syndrome in humans, and Valenzuela said these processes have evolutionary and health implications in many other organisms as well. (newswise.com)
- If abnormal or missing pieces of one of the X chromosomes occurs, all cells have one complete and one altered copy of the X chromosome. (medicinenet.com)
- A genetic disorder that causes abnormal development of many parts and systems of the body. (hopkinsmedicine.org)
- Pompe observed an abnormal accumulation of glycogen in all postmortem tissues examined and described the cardinal pathologic features of this lysosomal storage disorder. (medscape.com)
- An abnormal human baby with 'sex chromosomes XXX' was born due to:A. Fusion of two ova and one spermB. (vedantu.com)
- An abnormal baby with chromosomes- XXX is called a super female. (vedantu.com)
- The mother produces gametes with XX chromosome instead of X chromosome which when fuses with the sperm of the father with X chromosome produces an abnormal baby with chromosomes- XXX. (vedantu.com)
- Identifying mismatched and abnormal chromosomes is vital, yes, but when does this turn into selection of a health male or female embryo over the other? (science20.com)
Chromosomal6
- Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. (wikipedia.org)
- Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. (healthywomen.org)
- 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)
- Additionally, they support the possibility that sex biases result from sex chromosomal effects, although supporting evidence is currently limited [ 10 ]. (nature.com)
- MedGenome CEO Sam Santhosh said in a statement that India has the largest number of babies born with chromosomal disorders in the world, about 130,000 each year. (genomeweb.com)
- Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
Abnormalities6
- His main interest is in normal brain development, and how abnormalities in this process lead to neurodevelopmental/neuropsychiatric disorders. (kcl.ac.uk)
- The Institute for Translational Neurodevelopment was launched in 2013 and carries out multidisciplinary 'translational' studies of normal development, and how abnormalities in that process lead to high cost neurodevelopmental disorders. (kcl.ac.uk)
- Overview of Sex Chromosome Abnormalities Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. (msdmanuals.com)
- Under the terms of the agreement, MedGenome will have a license to develop the capacity of and to perform the test, which screens for trisomies, 21, 18, and 13, and certain sex chromosome abnormalities, such as monosomy X. (genomeweb.com)
- 2] The addition of more than one extra X or Y chromosome to a male karyotype results in variable physical and cognitive abnormalities. (medscape.com)
- In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. (medscape.com)
Aneuploidy4
- Now, individuals with sex chromosome disorders have aneuploidy , meaning that there's a missing or extra sex chromosome. (osmosis.org)
- Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. (wikipedia.org)
- Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
- In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
Female sex3
- DSDs are divided into following categories, emphasizing the karyotype's role in diagnosis: 46,XX DSD: Genetic Female Sex Chromosomes. (wikipedia.org)
- The mother's egg always provides a female sex chromosome known as 'X', while the father's sperm contributes either an 'X' (female) or 'Y' (male) chromosome. (vic.gov.au)
- Sex refers to biological characteristics (such as genitals, chromosomes, and hormones) used to categorize a person as male or female sex. (merckmanuals.com)
Humans6
- For instance, in humans and many other species, sex chromosomes are referred to as X and Y. Typically, two X chromosomes result in a female while XY chromosomes result in males. (newswise.com)
- 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)
- Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
- Humans typically have a pair of sex chromosomes in each cell. (cnn.com)
- These sentences are mantras of gender ideology - an ideology that claims that sex is not a reliable classification for humans. (quackometer.net)
- Humans have 46 paired chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors. (vic.gov.au)
Gene25
- XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated SRY and the second with no SRY gene. (wikipedia.org)
- XY, Sex reversal: patients with female phenotypes where duplication in the Xp21.2 region of the X chromosome that contains the NR0B1 (DAX1) gene is associated with XY sex reversal. (wikipedia.org)
- A new paper from Duke molecular genetics and microbiology shows how pathogenic Cryptococcus fungi evolved from having many sexes to just two through 50 million years of gene swapping. (phys.org)
- A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder. (medlineplus.gov)
- The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (newswise.com)
- Also, sometimes pieces of chromosomes become switched, or transposed, so that a gene ends up in a location where it is permanently and inappropriately turned on or off. (healthywomen.org)
- If only one copy of a given gene has a mutation, you are a healthy carrier of the disorder. (healthywomen.org)
- There is a gene located on the top portion of the Y chromosome, called "SRY," which, if present, will cause the gonad to become testes (indicating a male) around the sixth week of fetal life. (choc.org)
- Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
- Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
- By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
- Recessive" means that two copies of the mutated gene (one from each parent) are required to cause the disorder. (genome.gov)
- By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)
- Autosomal recessive disorders results when an individual posses double defective replica of autosomal gene and when neither replica is able to be transcribed as a purposeful enzyme product. (write-right.net)
- The autosomal recessive disorder can occur only in patients who have double copies of a gene mutation, one originating from each parent. (write-right.net)
- The U.S. Food and Drug Administration on Thursday approved a costly single-dose gene therapy for patients with severe hemophilia A, a life-threatening hereditary bleeding disorder. (medicalxpress.com)
- The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the altered gene. (medlineplus.gov)
- The sons of a man with an X-linked disorder will not be affected, but all of his daughters will inherit the altered gene and may develop signs and symptoms of the condition. (medlineplus.gov)
- Therefore, with each pregnancy, a woman with an X-linked disorder has a 50 percent chance of having a child with the altered gene. (medlineplus.gov)
- Kennedy's disease is caused by a genetic mutation of the androgen receptor gene on the X chromosome. (vic.gov.au)
- Since the disease is recessive, the presence of the normal gene on the other X chromosome means that girls don't develop the symptoms of disease, because the normal gene overrides the mutated one. (vic.gov.au)
- This is because boys only receive one X chromosome and, if that has the mutated gene, they will one day develop the symptoms of Kennedy's disease. (vic.gov.au)
- The androgen receptor gene helps to control the activity of the male sex hormones (androgens). (vic.gov.au)
- In males (who have only one X chromosome), one altered copy of a gene in each cell is sufficient to cause the condition. (medlineplus.gov)
- She can pass on the altered gene but usually does not experience signs and symptoms of the disorder. (medlineplus.gov)
Sperm11
- 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)
- Hypogonadism is the condition in which the production of sex hormones and germ cells (sperm and eggs) is inadequate. (encyclopedia.com)
- Along with producing eggs and sperm, they produce sex hormones that generate all the differences between men and women. (encyclopedia.com)
- if the sperm with the Y chromosome fertilizes an egg, the baby will be male. (encyclopedia.com)
- Absence of the X chromosome that occurs due to a defect in the father's sperm or in the mother's egg. (medicinenet.com)
- The more detailed information provided by the new Y reference sequence will make it easier to study conditions and disorders linked to the chromosome, such as lack of sperm production that leads to infertility. (cnn.com)
- The egg and sperm each have one half of a set of chromosomes. (kidshealth.org)
- The egg and sperm together give the baby the full set of chromosomes. (kidshealth.org)
- Environmental exposure to polychlorinated biphenyls and p,p'-DDE and sperm sex-chromosome disomy. (cdc.gov)
- OBJECTIVES: We evaluated the association of polychlorinated biphenyl (PCB) and dichlorodiphenyldichloroethylene (p,p'-DDE) exposures with sperm sex-chromosome disomy. (cdc.gov)
- We used multiprobe fluorescence in situ hybridization (FISH) for chromosomes X, Y, and 18 to determine XX, YY, XY, and total sex-chromosome disomy in sperm nuclei. (cdc.gov)
Pairs6
- 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)
- Most people have 23 pairs of chromosomes in the nucleus of each cell. (healthywomen.org)
- The first attempt to determine the building blocks of our genetic code took place 20 years ago, but there were still significant gaps left in the sequences of all 23 pairs of human chromosomes. (cnn.com)
- Usually, there are 46 individual chromosomes arranged in 23 pairs and they are found in the cells of the body. (vcfsef.org)
- There are 22 autosomal pairs of chromosomes and one sex-determining pair. (vcfsef.org)
- Analysis can see which embryos have the normal 23 pairs of chromosomes, and identify ones that may have extra or less than enough sex chromosomes. (science20.com)
Congenital Adrenal Hyp2
- The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
- In 46,XX karyotype patients ( n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)
Hormones6
- The organs affected principally by sex hormones are the male and female genitals, both internal and external, and the female breasts. (encyclopedia.com)
- These gonadal hormones are produced by the hypothalamic-pituitary-gonadal (HPG) axis and have been shown to determine sex differences in adult HPA function after acute stress via their activational and organizational effects. (nature.com)
- Although these actions of gonadal hormones are well supported, the possibility that sex chromosomes similarly influence HPA activity is unexplored. (nature.com)
- Moreover, questions remain regarding sex differences in the activity of the HPA axis following chronic stress and the underlying contributions of gonadal hormones and sex chromosomes. (nature.com)
- We primarily outline what is known about how gonadal hormones and sex chromosomes modulate HPA axis activity following acute stress, and then focus on sex-biased HPA axis activity post-chronic stress, which is far less well understood. (nature.com)
- Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
Talk about sex1
- The Ainsworth article goes along the well established specious set of arguments you will find in 'gender studies'- it seeks to undermine our ability to talk about sex. (quackometer.net)
Autosomes1
- These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
Abnormality1
- The chromosome analysis determines whether there is a missing X chromosome or abnormality in any one of the X chromosomes. (medicinenet.com)
Karyotype4
- 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)
- 1. Describe the structure, function and evolution of eukaryotic chromosomes, and identify the factors governing chromosome stability and driving karyotype diversity. (aber.ac.uk)
- It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
Differences11
- For example, important differences between sexes were evidenced in respect of palisadic tissue, epidermal stomatic number, secretory hair distribution etc. (researchgate.net)
- The article is about differences in outcomes for people with different sexes (male and female). (quackometer.net)
- The article is clear this is about sex differences. (quackometer.net)
- This module explores how chromosomes have evolved to be proficient vehicles of inheritance, and how differences and changes in chromosome number and structure have important implications for speciation and the fitness of eukaryotic organisms. (aber.ac.uk)
- The present review examines what is currently known about sex differences in the neuroendocrine response to stress, as well as outstanding questions regarding this sex bias. (nature.com)
- Although it primarily focuses on the rodent literature, a brief discussion of sex differences in the human HPA axis is also included. (nature.com)
- Strikingly, women are at twice the risk of men for developing many of these diseases, likely due to sex differences in the function and regulation of the HPA axis [ 5 ]. (nature.com)
- Thus, understanding the nature and causes of such sex differences in the HPA axis following stress has important implications for understanding sex-biased risk for disease. (nature.com)
- Much of what is known about sex differences in the stress-induced activity of the HPA axis and their underlying mechanisms comes from studies done in rodents. (nature.com)
- The present review accordingly focuses on advances revealed from rodent studies in our understanding of sex differences in the stress-induced activity of the HPA axis in adulthood. (nature.com)
- We conclude with a brief discussion of sex differences in the human HPA axis with the caveat that they are less pronounced than in rodents and are largely dependent on the stress modality. (nature.com)
Autosomal dominant4
- Some disorders, such as Huntington disease, are autosomal dominant. (healthywomen.org)
- Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
- Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
- VCFS is an autosomal dominant disorder. (vcfsef.org)
Body's1
- also spelled hemophilia in North America, from the Greek haima αἷμα 'blood' and philia φιλος 'love') is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. (medicalxpress.com)
Recessive7
- Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. (medlineplus.gov)
- Such disorders are called autosomal recessive. (healthywomen.org)
- Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
- Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
- Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
- [ 1 ] GSD II is an autosomal-recessive disorder that results from deficiency of acid alpha-glucosidase (also known as acid maltase), a lysosomal hydrolase. (medscape.com)
- X-linked: Because the inheritance pattern of many X-linked disorders is not clearly dominant or recessive, some experts suggest that conditions be considered X-linked rather than X-linked dominant or X-linked recessive. (medlineplus.gov)
Genitals1
- In childhood, features of this disorder include short stature, small genitals and an excessive appetite. (rarediseases.org)
Gonadal1
- Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia in polysomy X males. (medscape.com)
Genetic disorders7
- There are a number of causes of hypogonadism, including stress, elevated prolactin levels, and several genetic disorders. (encyclopedia.com)
- Just like other genetic disorders, TDS may occur in whichever generation as a result of novel mutation. (write-right.net)
- The nature of numerical and structural chromosome change and its relationship to fertility and aetiology of human genetic disorders. (aber.ac.uk)
- How Do Genetic Disorders Happen? (kidshealth.org)
- Doctors can use this map to find and treat or cure some kinds of genetic disorders. (kidshealth.org)
- There is hope that treatments for many genetic disorders will be developed in the future. (kidshealth.org)
- Mucopolysaccharidosis III is considered the most common of these genetic disorders, occurring with an incidence of 1 in 70,000 newborns. (medscape.com)
Pseudoautosomal regions3
- The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes where recombination takes place between both sex chromosomes. (ukbiobank.ac.uk)
- To this end, we wish to examine common variants on the pseudoautosomal regions of the sex chromosomes associate with the risk of common diseases. (ukbiobank.ac.uk)
- About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)
Human Y chromosome2
- Just a few years ago, half of the human Y chromosome was missing (from the reference)," said Monika Cechova, co-lead author on the paper and postdoctoral scholar in biomolecular engineering at the University of California, Santa Cruz, in a statement. (cnn.com)
- The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)
Extra X chromosome4
- Klinefelter syndrome occurs when a boy has one extra X chromosome. (msdmanuals.com)
- Most boys inherit the extra X chromosome from their mother. (msdmanuals.com)
- In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)
- All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. (medscape.com)
Typically2
- Transgender is a general term that describes people with gender identities or gender expressions that differ from those typically associated with the sex they were assigned at birth. (merckmanuals.com)
- It does not mean that children have a gender identity that is different from the one typically associated with their sex at birth. (merckmanuals.com)
Occurs6
- 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)
- Disorders of sex differentiation, also known as disorders of sexual development or DSD, are conditions in which the sexual development that occurs during fetal growth does not happen as it should. (choc.org)
- This is not an inherited genetic disorder but occurs due to some error during the gamete formation. (vedantu.com)
- The defect occurs in the 47th chromosome so it is also called 47, triple X syndrome. (vedantu.com)
- Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. (msdmanuals.com)
- Dent disease is a chronic kidney disorder that occurs almost exclusively in males. (medlineplus.gov)
Nondisjunction1
- The major consequences of the extra sex chromosome, usually acquired through an error of nondisjunction during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
Hypogonadism1
- Testosterone is determined in men when reduced testosterone production is suspected, e.g. in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
Susceptibility1
- The data from this project will help to improve understanding of the role of the sex chromosomes in susceptibility to common disorders with a potential to develop stratified approaches to prediction and therapy. (ukbiobank.ac.uk)
Mutation1
- Families that already have an identified MECP2 mutation can get genetic testing to identify if they are carriers of the disorder. (nih.gov)
Organism's2
- Many organisms determine their sex by a pair of specialized chromosomes that appear in virtually every cell of an organism's body. (newswise.com)
- The hypothalamic-pituitary-adrenal (HPA) axis, a neuroendocrine network that controls hormonal responses to internal and external challenges in an organism's environment, exhibits strikingly sex-biased activity. (nature.com)
Symptoms7
- 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)
- After considering the symptoms, a blood test is done to analyze the child's chromosomes. (medicinenet.com)
- Each disorder has symptoms commonly seen with autism, as well as its own specific symptoms. (autism.org)
- Medical comorbidities are also commonly seen in autism spectrum disorder including PANS/PANDAS , ADD/ADHD, seizures, dental issues, sleep disturbances and gastrointestinal symptoms. (autism.org)
- The conditions listed below all exhibit similar behavioral symptoms to autism spectrum disorder. (autism.org)
- There are no such symptoms of this disorder. (vedantu.com)
- Dent disease is likely underdiagnosed because it may not be identified in people with mild signs and symptoms, and because its features overlap with those of other kidney disorders. (medlineplus.gov)
Organisms3
- Newswise - AMES, Iowa - A new study led by an Iowa State University scientist sheds light on how organisms have evolved to address imbalances in sex chromosomes. (newswise.com)
- The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)
- No peer reviewed biology paper would characterise sex (at least in oogamous organisms like us) as not being 'binary', not being a material fact, and being mutable (except in sequential hermaphrodites). (quackometer.net)
Proteins3
- This new analysis will allow us to better understand the regions of the Y chromosome that have regulatory functions and may encode mRNA and proteins. (cnn.com)
- With the launch of the human proteome project (HPP), the association of Y chromosome proteins with pathological conditions has been increasingly explored. (biomedcentral.com)
- Most of the circulating testosterone is bound to carrier proteins (sex hormone-binding globulin [SHBG], and albumin). (cdc.gov)
Karyotypes1
- Defining and comparing karyotypes by chromosome components. (aber.ac.uk)
PAR1 and PAR22
- The aim of this project is to examine whether genetic variation between PAR1 and PAR2 is associated with complex polygenic disorders and physiological traits. (ukbiobank.ac.uk)
- We will examine association between 1400 markers within the PAR1 and PAR2 (on the Biobank Axiom® Array) and the risk of coronary artery disease, inflammation-immunity related disorders (asthma, rheumatoid arthritis, type 1 diabetes and inflammatory bowel disease), hypertension, type II diabetes, obesity and chronic kidney disease and/or related physiological traits. (ukbiobank.ac.uk)
Diseases7
- 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)
- These papers likely represent the tip of the iceberg in terms of understanding the role of the Y chromosome in age-associated diseases," Walsh said, adding that the loss of the Y chromosome could partially account for men's shorter life spans. (cnn.com)
- Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)
- Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
- Glycogen-storage disease type II (GSD II), also known as Pompe disease, is part of a group of metabolic diseases called lysosomal storage disorders (LSDs). (medscape.com)
- Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
- In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
Child's3
- When a child's genitalia appears atypical at birth, the CHOC Center Urology Center Disorders of Sexual Differentiation Program team immediately becomes part of the child's care. (choc.org)
- A team of specialists conducts both a medical history and a physical examination of the child's external genitalia to make a diagnosis of the underlying cause of the disorder. (choc.org)
- Atypical genitalia may make determining the child's sex more difficult. (choc.org)
Individuals5
- Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (newswise.com)
- Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. (autism.org)
- Families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder. (autism.org)
- Because the species with male individuals and female individuals have evolved repeatedly from hermaphroditic progenitors, the mechanisms for the control of sex determination in flowering plants are extremely diverse. (researchgate.net)
- In particular, the resource was established to facilitate research into better understanding of why certain individuals are more predisposed to common disorders than the others. (ukbiobank.ac.uk)
Determination4
- Valenzuela has studied temperature-dependent sex determination (TSD), or the way environmental temperatures influence whether a turtle embryo develops into a male or female in species that lack sex chromosomes, in previous research. (newswise.com)
- The sex is principally determined by genotype in all species, but the mechanisms range from a single controlling locus to sex chromosomes bearing several linked loci required for sex determination. (researchgate.net)
- Drivers and models of chromosome evolution, sex determination and breeding systems, extrachromosomal inheritance and epigenetics. (aber.ac.uk)
- In mammals including human beings XY method of sex determination is followed. (vedantu.com)
Androgens1
- Sex hormone-binding globulin (SHBG) is the blood transport protein for androgens and estrogens. (cdc.gov)
Copies1
- This eliminates disorders such as Klienfelter's Syndrome with an XXY, Turner's with only an X chromosome, or Down 's syndrome with three copies of chromosome 21. (science20.com)
Physiological1
- Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. (biomedcentral.com)
Neurodevelopmental3
- Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that includes autism, Asperger's syndrome and pervasive developmental disorder not otherwise specified and is characterized by restricted repetitive behaviour, delays in language development and lack of reciprocal social communication and interaction 1 . (nature.com)
- Risk vs protective mechanisms underpinning the emergence of a variety of neurodevelopmental disorders including autism, ADHD, epilepsy and psychosis. (kcl.ac.uk)
- Rett syndrome is a neurodevelopmental disorder. (nih.gov)
Locus1
- In this study, the researchers showed that in Cryptococcus amylolentus, the ancestral state, the P/R locus resided on chromosome 10 and the HD locus on chromosome 11. (phys.org)
Reproductive1
- It is the most common hormonal disorder among women of reproductive age, which can occur as young as 11 years old, and is the leading cause of infertility. (cdc.gov)
Infertility1
- Scientists have fully sequenced the Y chromosome for the first time, uncovering information that could have implications for the study of male infertility and other health problems. (cnn.com)
GENETICS4
- At the Disorders of Sexual Differentiation Program, our team of specialists in pediatric endocrinology , genetics , social work , urology and psychology work with families to create the most ideal outcomes for their children. (choc.org)
- Recent research suggests the Y chromosome is also important for health and longevity, said Kenneth Walsh, a professor of biochemistry and molecular genetics at the University of Virginia School of Medicine, who was not involved in the new research. (cnn.com)
- Williams Syndrome (also known as Williams-Beuren syndrome) is a rare genetics disorder in which a portion of DNA material on chromosome 7 is missing. (autism.org)
- Ability to discern the central role of the chromosome in the genetics and evolution of eukaryotes. (aber.ac.uk)
Recombination1
- These regions of the chromosome are so dense that they were once thought to be removed from recombination. (phys.org)
Outcomes1
- Recently more than 700 published studies of the outcomes of having an extra sex chromosome were identified (Leggett 2010). (genetic.org)
Differentiation4
- This led to the Chicago Consensus, recommending a new terminology based on the umbrella term disorders of sex differentiation. (wikipedia.org)
- Our Disorders of Sexual Differentiation Program team has been on the forefront of research in this area. (choc.org)
- What are disorders of sexual differentiation? (choc.org)
- Based on the updated classification and new nomenclature recommendations put forth by the 2006 International Intersex Consensus Conference1, the Disorders of Sex Development (previously Sex Differentiation Disorders) trees and descriptors were revised and updated. (bvsalud.org)
Structures1
- Inside each cell, DNA is tightly wrapped together in structures called chromosomes . (kidshealth.org)
Monosomy1
- or no chromosome from that parent and one from the other parent, resulting in monosomy. (osmosis.org)
Biological3
- However, it has been questioned whether loss of the Y chromosome is a biomarker of biological aging or whether loss of the Y chromosome has a direct effect on the health of men," he said. (cnn.com)
- Understanding the biological mechanisms underlying many common disorders is one of the major goals of UK Biobank. (ukbiobank.ac.uk)
- Mothers with post-traumatic stress disorder (PTSD) may uniquely pass on biological risk factors to their offspring, according to work with the descendents of Holocaust survivors. (sfn.org)
Analyze1
- The study represents not only the first such study to analyze sex chromosome dosage compensation in turtles, but the findings also show that remarkably, temperature appears to affect the SCDC process in the turtles. (newswise.com)
Common5
- A connective tissue disorder (less common). (hopkinsmedicine.org)
- Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000-10,000 male births. (medicalxpress.com)
- The article makes sense if you accept the common use of the word gender in the article title as a synonym for sex - maybe to assuage the more squeamish American audience. (quackometer.net)
- Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). (medlineplus.gov)
- Klinefelter syndrome is the most common sex chromosome disorder. (msdmanuals.com)
Autism spectrum1
- One of the largest ever research projects finding new ways to develop drugs for autism spectrum disorder (ASD). (kcl.ac.uk)
Cell2
- Each cell in the human body has two sex chromosomes. (medicinenet.com)
- Using Fluorsecent In Situ Hybridization, genetic screening can count chromosomes in a cell removed from an embryo in question. (science20.com)
Hemophilia7
- 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 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)
- 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)
- People with one form of the genetic blood disorder hemophilia now have a one-time treatment with a $3.5 million price tag. (medicalxpress.com)
- Hemophilia is a bleeding disorder that slows down the blood clotting process. (genome.gov)
Hereditary1
- Thus, the hemp is included, according to some authors, in the category of plants with male heterogamy, whereas the others sustain the idea of a complex sex determinism, seen as resultant of interaction between individual hereditary potencies and the environmental factors. (researchgate.net)
Inheritance1
- Y-linked inheritance: Because only males have a Y chromosome, only males can be affected by and pass on Y-linked disorders . (medlineplus.gov)
Atypical1
- DSDs are medical conditions encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. (wikipedia.org)
Pair7
- Surprisingly, they've shown that these crucial translocations occurred at the centromeres, the twisty ties that hold together chromosomes at the center of an x-shaped pair. (phys.org)
- A matched pair of chromosomes results in one sex, while a mismatched pair results in another sex. (newswise.com)
- One of each chromosome pair is inherited from the mother and the other is inherited from the father. (healthywomen.org)
- Each parent contributes one chromosome to each pair. (vcfsef.org)
- Dominant means that only one of the chromosomes in the #22 pair needs to be affected in order to have the disorder. (vcfsef.org)
- The 23rd pair - the sex chromosomes - determines the sex of the baby. (kidshealth.org)
- A pair of X and Y chromosomes (XY) results in a male, and a pair of X and X chromosomes (XX) results in a female. (msdmanuals.com)
Characteristics1
- If sex chromosomes are involved, there is a change in the development of sexual characteristics. (encyclopedia.com)
Development3
- Sex hormone replacement therapy may help the affected person attain physical development related to adolescence. (medicinenet.com)
- As the number of X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.com)
- Taken together, these results suggest the involvement of both direct and indirect effects of X-chromosome haploinsufficiency on brain development in TS. (bvsalud.org)