Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
An antiviral antibiotic produced by Cephalosporium aphidicola and other fungi. It inhibits the growth of eukaryotic cells and certain animal viruses by selectively inhibiting the cellular replication of DNA polymerase II or the viral-induced DNA polymerases. The drug may be useful for controlling excessive cell proliferation in patients with cancer, psoriasis or other dermatitis with little or no adverse effect upon non-multiplying cells.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
Genes that encode highly conserved TRANSCRIPTION FACTORS that control positional identity of cells (BODY PATTERNING) and MORPHOGENESIS throughout development. Their sequences contain a 180 nucleotide sequence designated the homeobox, so called because mutations of these genes often results in homeotic transformations, in which one body structure replaces another. The proteins encoded by homeobox genes are called HOMEODOMAIN PROTEINS.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
All the organs involved in reproduction and the formation and release of URINE. It includes the kidneys, ureters, BLADDER; URETHRA, and the organs of reproduction - ovaries, UTERUS; FALLOPIAN TUBES; VAGINA; and CLITORIS in women and the testes; SEMINAL VESICLES; PROSTATE; seminal ducts; and PENIS in men.
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.

How many tumor suppressor genes are involved in human lung carcinogenesis? (1/223)

To date, only a limited number of tumor suppressor genes have been identified as being inactivated in lung cancer. The p53 and RB genes are frequently inactivated by genetic alterations such as chromosomal deletions and loss-of-function mutations, while the p16 gene is inactivated not only by genetic alterations but also by transcriptional silencing due to hypermethylation. Recently, it was shown that the FHIT gene encompassing the chromosomal fragile site, FRA3B, is also inactivated in a large proportion of lung cancers. Several lines of evidence indicate the presence of additional tumor suppressor genes involved in lung carcinogenesis. Lung cancer cells often show deletions at multiple chromosomal regions, and deletion mapping studies have defined more than 30 regions dispersed on 21 different chromosome arms as candidate tumor suppressor loci. Several chromosomal regions hypermethylated in lung cancer cells and a number of chromosomal fragile sites have been mapped to the regions deleted in lung cancer. These chromosomal loci can harbor unknown tumor suppressor genes inactivated in lung cancer. Studies on the inherited susceptibility to lung cancer in mice have also indicated the presence of additional tumor suppressor genes for lung cancer. Further analyses of these loci should elucidate how many tumor suppressor genes are involved in human lung carcinogenesis. Molecular and functional analyses of those genes will make it possible to fully understand the molecular mechanism of lung carcinogenesis.  (+info)

Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. (2/223)

Cytogenetic investigations were performed in 781 couples prior to intracytoplasmic sperm injection (ICSI) because of severe male infertility or fertilization failures in previous in-vitro fertilization attempts. Out of these 1562 patients, 1012 had a normal karyotype without any aberrations (64.8%), 204 patients had an abnormal karyotypes (13.1%). These chromosome aberrations included constitutional aberrations (4.4%), fragile sites of autosomes (3.0%), low level mosaicism of sex chromosomes (4.0%) and secondary structural chromosome aberrations (4.2%). Combinations of different types of abnormalities were stated. Another 346 patients (22.1%) showed single cell aberrations; the significance of these is unclear at the moment. Constitutional chromosome aberrations were detected in 69 patients. The following chromosome aberrations were observed: 35 sex chromosomal aberrations (comprising hyperploidies of X or Y chromosomes, mosaicisms and derivative X and Y chromosomes), 34 autosomal aberrations including 14 reciprocal translocations, five Robertsonian translocations, six inversions, one marker chromosome, one trisomy 18 mosaicism and seven other structural aberrations. Three autosomal regions showed fragile sites: 6q13 in 2.9% of the patients, 17p12 and 10q24 in 0.05% each. In conclusion, our data show that a high number of infertile couples in an ICSI programme are affected by chromosome aberrations which occur in both sexes. It is suggested that a chromosomal analysis should be performed on both partners before ICSI treatment is initiated.  (+info)

CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae. (3/223)

An expansion to >200 CGG/CCG repeats (hereafter called CGG) in the 5' region of the FMR1 gene causes fragile X syndrome, and this locus becomes a folate-sensitive fragile site. We used Saccharomyces cerevisiae as a model system to study the stability and fragility of CGG repeats. Tracts of (CGG)(81)and (CGG)(160)were integrated onto a yeast chromosome in both orientations relative to the nearest replication origin. Tracts of this length are pre-mutation alleles in humans, with a high probability of expansion in future generations. The CGG tracts in yeast colonies showed a length-dependent instability with longer tracts being more prone to contraction than shorter tracts. In addition, there was an orientation bias for tract stability with tracts having fewer contractions when the CCG strand was the template for lagging strand synthesis. Expansions of the CGG tracts also occurred in an orientation-dependent manner, although at a lower frequency than contractions. To determine whether CGG tracts are fragile sites in yeast, the CGG tracts were flanked by direct repeats, and the rate of recombination between the repeats determined. Strains carrying the (CGG)(160)tract in either orientation had a large increase in their rate of recombination compared with a no-tract control strain. Because this increase was dependent on genes involved in double-strand break repair, recombination was likely to be initiated by CGG tract-induced breakage between the direct repeats. The observation of orientation-dependent instability and orientation-independent fragility suggests that at least some aspects of their underlying mechanisms are different.  (+info)

Chromosomal fragile site FRA16D and DNA instability in cancer. (4/223)

It has been proposed that common aphidicolin-inducible fragile sites, in general, predispose to specific chromosomal breakage associated with deletion, amplification, and/or translocation in certain forms of cancer. Although this appears to be the case for the fragile site FRA3B and may be the case for FRA7G, it is not yet clear whether this association is a general property of this class of fragile site. The major aim of the present study was to determine whether the FRA16D chromosomal fragile site locus has a role to play in predisposing DNA sequences within and adjacent to the fragile site to DNA instability (such as deletion or translocation), which could lead to or be associated with neoplasia. We report the localization of FRA16D within a contig of cloned DNA and demonstrate that this fragile site coincides with a region of homozygous deletion in a gastric adenocarcinoma cell line and is bracketed by translocation breakpoints in multiple myeloma, as reported previously (Chesi, M., et al., Blood, 91: 4457-4463, 1998). Therefore, given similar findings at the FRA3B and FRA7G fragile sites, it is likely that common aphidicolin-inducible fragile sites exhibit the general property of localized DNA instability in cancer cells.  (+info)

A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D. (5/223)

We have identified a >600-kb region at 16q23.2 that is homozygously deleted from malignant ovarian ascites using representational difference analysis. Overlapping homozygous deletions were also observed in the colon carcinoma cell line HCT116 and a xenograft established from the small cell lung cancer cell line WX330. This region coincides with that described previously by others as showing loss of heterozygosity in prostate and breast cancers (C. Li et al., Genes Chromosomes Cancer, 24: 175-182, 1999; A. Latil et al., Cancer Res., 57: 1058-1062, 1997; K. Driouch et al., Genes Chromosomes Cancer, 19: 185-191, 1997; A. Iida et al., Br. J. Cancer, 75: 264-267, 1997). In addition, the minimally deleted region spans the common fragile site FRA16D. We have constructed a 700-kb physical map encompassing the deleted region. By fluorescence in situ hybridization of aphidicolin-induced metaphase chromosomes, we have preliminary data to suggest that P1-derived bacterial artificial chromosome clones from the contig lie on both sides of FRA16D. This is confirmed by extensive fluorescence in situ hybridization analysis of the region reported in the accompanying article (M. Mangelsdorf et al., Cancer Res., 60: 1683-1689, 2000) and is consistent with an involvement of this common fragile site in the loss of 16q23.2 material in various cancer types. The minimally deleted region of approximately 210 kb has been characterized using our own markers and public domain markers. Eleven distinct expressed sequences mapped to the region, providing a basis for identifying the predicted tumor suppressor gene in this region.  (+info)

Definitive functional evidence for a tumor suppressor gene on human chromosome 7q31.1 neighboring the Fra7G site. (6/223)

We have previously shown that loss of heterozygosity (LOH) on human chromosome (hchr) 7 at q31.1 is common in a variety of tumors of epithelial origin. Frequent LOH of a specific chromosomal marker is indicative of a closely linked tumor suppressor gene (TSG). However, recent reports have also indicated that such a high frequency of LOH could be due to the presence in this region of the second most common aphidicolin-inducible fragile site in the human genome (Fra7G). To address this controversy, we introduced single copies of hchr7 or hchr12 into a highly aggressive human prostate carcinoma cell line (PC3) by microcell-mediated transfer. The tumorigenicity of six clones of PC3/hchr7 hybrids and three clones of PCRhchr12 hybrids, obtained in four separate fusion experiments, were studied in BALB/c nude mice. All but one of the PC3/hchr7 hybrids increased tumor latency by at least twofold, whereas none of the PC3/hchr12 hybrids delayed tumor onset. No differences in the in vitro growth rate were observed among any of the cell lines assayed (parental and hybrids) suggesting that the observed tumor suppression was due to factors other than cell cycle regulation. Deletion mapping of the PC3/hchr7 tumors obtained after reversion to the malignant phenotype revealed a common region of loss centred around 7q31.1, supporting the TSG hypothesis. The smallest commonly deleted region was approximately 1.5 Mb in size and flanked by the markers D7S486 and D7S655.  (+info)

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. (7/223)

Folate-sensitive fragile sites are associated with the expansion and hypermethylation of CCG-repeats. The fragile site in 11q23.3, FRA11B, has been shown to cause chromosome deletions in vivo, its expression being associated with Jacobsen (11q-) syndrome. However, the majority of Jacobsen deletions are distal to FRA11B and are not related to its expression. To test the hypothesis that other unidentified fragile sites might be located in 11q23.3-24 and may cause these deletions, we have identified and characterised CCG-trinucleotide repeats within a 40 Mb YAC contig spanning distal chromosome 11q. Only eight CCG-repeats were identified within the entire YAC contig (not including FRA11B ), six of which map to the region of 11q23.3-24 that includes Jacobsen deletions. We have previously collated the deletion mapping data of 24 Jacobsen patients with the physical map of chromosome 11q, and accurately localised six breakpoints to short intervals corresponding to individual YAC clones. We now show that in each of these cases, YAC clones found to contain a deletion breakpoint also contain a CCG-repeat. The improved analysis of one of these deletions, together with those of several new Jacobsen cases, further strengthens this association by localising five breakpoints to individual PAC clones containing CCG-repeats. These data provide strong evidence for the non-random clustering of chromosome deletion breakpoints with CCG-repeats, and suggests that they may play an important role in a common mechanism of chromosome breakage.  (+info)

The expression of common fragile sites in peripheral blood lymphocytes of breast and colorectal cancer patients with aphidicolin. (8/223)

The frequency and distribution of aphidicolin induced common fragile sites was evaluated on chromosomes of peripheral blood lymphocytes in 10 breast and 10 colorectal cancer patients, and 10 healthy controls to determine correlation between specific fragile sites and cancer breakpoints. Fifty complete metaphases were screened from each culture and the results were evaluated by Student's t-test. The total number of fragile sites was found as 933 in breast cancer patients, 950 in colorectal cancer patients and 501 in control group. Both the number of aberrations per cell and number of aberrations per damaged cell were significantly higher in the patient groups. These findings indicate that genetic instability in the breast and colorectal cancer patients increased and fragile sites may play a critical role in the pathogenesis of breast and colorectal cancer.  (+info)

Chromosome fragile sites are specific locations along the length of a chromosome that are prone to breakage or rearrangement when exposed to certain chemicals or conditions, such as replication stress during cell division. These sites are often characterized by the presence of repetitive DNA sequences and proteins that help maintain the stability of the chromosome.

Fragile sites can be classified into two categories: common and rare. Common fragile sites are present in most individuals and are typically not associated with genetic disorders, while rare fragile sites are less common and may be linked to specific genetic conditions or increased risk for cancer.

When a chromosome breaks at a fragile site, it can lead to various genetic abnormalities such as deletions, duplications, inversions, or translocations of genetic material. These changes can have significant consequences on gene expression and function, potentially leading to developmental disorders, intellectual disability, cancer, or other health issues.

It is important to note that not all fragile sites will result in genetic abnormalities, as some may remain stable under normal conditions. However, certain factors such as environmental exposures, aging, or inherited genetic predispositions can increase the likelihood of chromosomal instability at fragile sites.

Chromosome fragility refers to the susceptibility of specific regions on chromosomes to break or become unstable during cell division. These fragile sites are prone to forming gaps or breaks in the chromosome structure, which can lead to genetic rearrangements, including deletions, duplications, or translocations.

Chromosome fragility is often associated with certain genetic disorders and syndromes. For example, the most common fragile site in human chromosomes is FRAXA, located on the X chromosome, which is linked to Fragile X Syndrome, a leading cause of inherited intellectual disability and autism.

Environmental factors such as exposure to chemicals or radiation can also increase chromosome fragility, leading to an increased risk of genetic mutations and diseases.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.

Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.

For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.

Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.

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

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

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

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

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

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).

Aphidicolin is an antimicrotubule agent that is specifically a inhibitor of DNA polymerase alpha. It is an antibiotic that is produced by the fungus Cephalosporium aphidicola and is used in research to study the cell cycle and DNA replication. In clinical medicine, it has been explored as a potential anticancer agent, although its use is not currently approved for this indication.

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

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

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

Human chromosome pair 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.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

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.

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord responsible for controlling voluntary muscle movements, such as speaking, walking, breathing, and swallowing. The condition is characterized by the degeneration of motor neurons in the brain (upper motor neurons) and spinal cord (lower motor neurons), leading to their death.

The term "amyotrophic" comes from the Greek words "a" meaning no or negative, "myo" referring to muscle, and "trophic" relating to nutrition. When a motor neuron degenerates and can no longer send impulses to the muscle, the muscle becomes weak and eventually atrophies due to lack of use.

The term "lateral sclerosis" refers to the hardening or scarring (sclerosis) of the lateral columns of the spinal cord, which are primarily composed of nerve fibers that carry information from the brain to the muscles.

ALS is often called Lou Gehrig's disease, named after the famous American baseball player who was diagnosed with the condition in 1939. The exact cause of ALS remains unknown, but it is believed to involve a combination of genetic and environmental factors. There is currently no cure for ALS, and treatment primarily focuses on managing symptoms and maintaining quality of life.

The progression of ALS varies from person to person, with some individuals experiencing rapid decline over just a few years, while others may have a more slow-progressing form of the disease that lasts several decades. The majority of people with ALS die from respiratory failure within 3 to 5 years after the onset of symptoms. However, approximately 10% of those affected live for 10 or more years following diagnosis.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness, myotonia (delayed relaxation of muscles after contraction), and other symptoms. It is caused by an expansion of repetitive DNA sequences in the DMPK gene on chromosome 19 (type 1) or the ZNF9 gene on chromosome 3 (type 2). These expansions result in abnormal protein production and accumulation, which disrupt muscle function and can also affect other organs such as the heart, eyes, and endocrine system. Myotonic dystrophy is a progressive disease, meaning that symptoms tend to worsen over time. It is typically divided into two types: myotonic dystrophy type 1 (DM1), which is more common and severe, and myotonic dystrophy type 2 (DM2), which tends to be milder with a later onset of symptoms.

Neuromuscular diseases are a group of disorders that involve the peripheral nervous system, which includes the nerves and muscles outside of the brain and spinal cord. These conditions can affect both children and adults, and they can be inherited or acquired. Neuromuscular diseases can cause a wide range of symptoms, including muscle weakness, numbness, tingling, pain, cramping, and twitching. Some common examples of neuromuscular diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), peripheral neuropathy, and myasthenia gravis. The specific symptoms and severity of these conditions can vary widely depending on the underlying cause and the specific muscles and nerves that are affected. Treatment for neuromuscular diseases may include medications, physical therapy, assistive devices, or surgery, depending on the individual case.

Homeobox genes are a specific class of genes that play a crucial role in the development and regulation of an organism's body plan. They encode transcription factors, which are proteins that regulate the expression of other genes. The homeobox region within these genes contains a highly conserved sequence of about 180 base pairs that encodes a DNA-binding domain called the homeodomain. This domain is responsible for recognizing and binding to specific DNA sequences, thereby controlling the transcription of target genes.

Homeobox genes are particularly important during embryonic development, where they help establish the anterior-posterior axis and regulate the development of various organs and body segments. They also play a role in maintaining adult tissue homeostasis and have been implicated in certain diseases, including cancer. Mutations in homeobox genes can lead to developmental abnormalities and congenital disorders.

Some examples of homeobox gene families include HOX genes, PAX genes, and NKX genes, among others. These genes are highly conserved across species, indicating their fundamental role in the development and regulation of body plans throughout the animal kingdom.

A multigene family is a group of genetically related genes that share a common ancestry and have similar sequences or structures. These genes are arranged in clusters on a chromosome and often encode proteins with similar functions. They can arise through various mechanisms, including gene duplication, recombination, and transposition. Multigene families play crucial roles in many biological processes, such as development, immunity, and metabolism. Examples of multigene families include the globin genes involved in oxygen transport, the immune system's major histocompatibility complex (MHC) genes, and the cytochrome P450 genes associated with drug metabolism.

Homeodomain proteins are a group of transcription factors that play crucial roles in the development and differentiation of cells in animals and plants. They are characterized by the presence of a highly conserved DNA-binding domain called the homeodomain, which is typically about 60 amino acids long. The homeodomain consists of three helices, with the third helix responsible for recognizing and binding to specific DNA sequences.

Homeodomain proteins are involved in regulating gene expression during embryonic development, tissue maintenance, and organismal growth. They can act as activators or repressors of transcription, depending on the context and the presence of cofactors. Mutations in homeodomain proteins have been associated with various human diseases, including cancer, congenital abnormalities, and neurological disorders.

Some examples of homeodomain proteins include PAX6, which is essential for eye development, HOX genes, which are involved in body patterning, and NANOG, which plays a role in maintaining pluripotency in stem cells.

Hypospadias is a congenital condition in males where the urethral opening (meatus), which is the end of the urethra through which urine exits, is not located at the tip of the penis but instead appears on the underside of the penis. The severity of hypospadias can vary, with some cases having the meatus located closer to the tip and others further down on the shaft or even at the scrotum or perineum (the area between the scrotum and the anus). This condition affects about 1 in every 200-250 male newborns. The exact cause of hypospadias is not fully understood, but it's believed to be a combination of genetic and environmental factors. Surgical correction is usually recommended during infancy or early childhood to prevent complications such as difficulty urinating while standing, problems with sexual function, and psychological issues related to body image.

The urogenital system is a part of the human body that includes the urinary and genital systems. The urinary system consists of the kidneys, ureters, bladder, and urethra, which work together to produce, store, and eliminate urine. On the other hand, the genital system, also known as the reproductive system, is responsible for the production, development, and reproduction of offspring. In males, this includes the testes, epididymis, vas deferens, seminal vesicles, prostate gland, bulbourethral glands, and penis. In females, it includes the ovaries, fallopian tubes, uterus, vagina, mammary glands, and external genitalia.

The urogenital system is closely related anatomically and functionally. For example, in males, the urethra serves as a shared conduit for both urine and semen, while in females, the urethra and vagina are separate but adjacent structures. Additionally, some organs, such as the prostate gland in males and the Skene's glands in females, have functions that overlap between the urinary and genital systems.

Disorders of the urogenital system can affect both the urinary and reproductive functions, leading to a range of symptoms such as pain, discomfort, infection, and difficulty with urination or sexual activity. Proper care and maintenance of the urogenital system are essential for overall health and well-being.

Gonadal dysgenesis is a condition characterized by the abnormal development of the gonads, which are the reproductive organs that produce sex hormones and gametes (sperm or eggs). In individuals with gonadal dysgenesis, the gonads may be underdeveloped, structurally abnormal, or completely absent. This condition can affect people of any gender and is often associated with other genetic disorders, such as Turner or Klinefelter syndromes.

The clinical presentation of gonadal dysgenesis varies widely depending on the severity of the disorder and the presence of other associated conditions. Some individuals may have normal sexual development and fertility, while others may experience delayed puberty, infertility, or ambiguous genitalia. Gonadal dysgenesis can also increase the risk of developing gonadal tumors, particularly in individuals with complete or partial absence of the gonads.

The diagnosis of gonadal dysgenesis is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may include hormone replacement therapy to support sexual development and prevent complications associated with hormonal imbalances. In some cases, surgical removal of the gonads may be recommended to reduce the risk of tumor development.

Durkin, Sandra G.; Glover, Thomas W. (Dec 2007). "Chromosome Fragile Sites". Annual Review of Genetics. 41 (1): 169-192. doi: ... These sites are called fragile sites, and can occur commonly as naturally present in most mammalian genomes or occur rarely as ... Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ... Although, seemingly harmful, these common fragile sites are conserved all the way to yeast and bacteria. These ubiquitous sites ...
For a database of fragile sites in human chromosomes, see Rare fragile sites (RFSs) are classified into two sub-groups based on ... "Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression". American Journal ... "Heritable fragile sites on human chromosomes. X. New folate-sensitive fragile sites: 6p23, 9p21, 9q32, and 11q23". American ... The FRAXA site is perhaps most famous for its role in Fragile X syndrome, but fragile sites are clinically implicated in many ...
Fragile sites on human chromosomes- a personal odyssey - Grant R Sutherland's narrative on his retirement, containing much more ... He developed methods to allow the reliable observation of fragile sites on chromosomes. These studies culminated in the ... Sutherland, Grant R.; Hecht, Frederick (1985). Fragile sites on human chromosomes. New York: Oxford University Press. ISBN ... He developed techniques to observe fragile sites, which allowed him to specify critical DNA fragments on the fragile X ...
"Biology before the SOS Response-DNA Damage Mechanisms at Chromosome Fragile Sites". Cells. 10 (9): 2275. doi:10.3390/ ... Witkin spent her official working hours in the lab, and did planning, data analysis and writing at home. In 1949, she was ...
2008). "Disabled-1 is a large common fragile site gene, inactivated in multiple cancers". Genes Chromosomes Cancer. 47 (2): 165 ... 2006). "Functional dissection of Reelin signaling by site-directed disruption of Disabled-1 adaptor binding to apolipoprotein E ... Genes on human chromosome 1, Peripheral membrane proteins, Phosphoproteins, Developmental neuroscience). ...
... "fragile sites" (discontinuity of staining in the region of the trinucleotide repeat) on the long arm of the X chromosome. This ... "What is Fragile-X syndrome?". @yourgenome · Science website. Retrieved 2023-07-15. "What are the symptoms of Fragile X syndrome ... "marker X chromosome" in association with intellectual disability. In 1970, Frederick Hecht coined the term "fragile site". And ... Fragile X syndrome tends to show more symptoms on affected males since females have another X chromosome which can compensate ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, Wikipedia ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... HOXD13 is the first of several HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, Wikipedia ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence- ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, All articles ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, Wikipedia ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
"Effect of exogenous E2F-1 on the expression of common chromosome fragile site genes, FHIT and WWOX". Biochem. Biophys. Res. ... Ramos D, Aldaz CM (2006). "WWOX, a Chromosomal Fragile Site Gene and its Role in Cancer". New trends in cancer for the 21st ... Ludes-Meyers JH, Bednarek AK, Popescu NC, Bedford M, Aldaz CM (2004). "WWOX, the common chromosomal fragile site, FRA16D, ... "Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and ...
"CGG-Repeat Expansion in the DIP2B Gene is Associated with the Fragile Site FRA12A on Chromosome 12q13.1". The American Journal ... This gene is located near a folate-sensitive fragile site. Model organisms have been used in the study of DIP2B function. A ... Genes on human chromosome 12, Human proteins, Genes mutated in mice, All stub articles, Human chromosome 12 gene stubs). ... as well as AMP-binding sites. The presence of these sites suggests that DIP2B may participate in DNA methylation. ...
Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man by R. Ellen Magenis, Frederick Hecht ... Magenis's first major research project involved a heritable fragile site on the long (q) arm of chromosome 16. She traced this ... 16q fragile site through a multigenerational family and, together with Hecht and Everett Lovrien, she linked the 16q fragile ... Her special interest continued to be in human chromosome mapping. Magenis died on February 4, 2014, after a long illness. Ellen ...
2007). "CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1". Am. J. Hum. ... Genes on human chromosome 21, All stub articles, Human chromosome 21 gene stubs). ... Gardiner K, Slavov D, Bechtel L, Davisson M (2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene ...
... s have been associated with chromosome fragile sites and are proximal to a number of recurrent translocation ... Minisatellites are prominent in the centromeres and telomeres of chromosomes, the latter protecting the chromosomes from damage ... which protect the ends of a chromosome from deterioration or from fusion with neighbouring chromosomes. ... In humans, 90% of minisatellites are found at the sub-telomeric region of chromosomes. The human telomere sequence itself is a ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, All stub articles, ... to human chromosome 17p13.1 by in situ hybridization". Cytogenetics and Cell Genetics. 89 (3-4): 218-9. doi:10.1159/000015617. ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. GRCh38: Ensembl ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Wikipedia articles ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... Genes on human chromosome 19, Transcription factors, All stub articles, Human chromosome 19 gene stubs). ... 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635-48. doi:10.1016/ ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, Wikipedia articles ...
v t e (Articles with short description, Short description matches Wikidata, Human genes, All stub articles, Human chromosome 2 ... Fragile site, folic acid type, rare, fra(2)(q13) is a protein that in humans is encoded by the FRA2B gene. "Human PubMed ... "Entrez Gene: Fragile site, folic acid type, rare, fra(2)(q13)". Retrieved 2017-04-04. ...
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, All stub articles, ... 2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-35. Bibcode:2004Natur.428..529G. doi: ... "Cloning of six new genes with zinc finger motifs mapping to short and long arms of human acrocentric chromosome 22 (p and q11.2 ...
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ...
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... Gao Y, Kobayashi H, Ganss B (2004). "The human KROX-26/ZNF22 gene is expressed at sites of tooth formation and maps to the ... 1992). "A cluster of expressed zinc finger protein genes in the pericentromeric region of human chromosome 10". Genomics. 13 (3 ... "Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering". ...
... investigated genome instability and made significant contributions to knowledge of the involvement of frequent fragile sites in ... They then used a combination of chromosome walking and chromosome hopping or jumping to locate the CF gene, which they named ... each chromosome a child inherits is a mix of the both of that parent's copies of that chromosome. Markers would only be ... cite web}}: ,first= has generic name (help) "Team". scholars.huji.ac.il. Retrieved 2021-01-09. "Batsheva Kerem". exonskipping. ...
In the simple crossover model, the two homologous chromosomes overlap on or near a common Chromosomal fragile site (CFS). This ... The net effect of this would be one heterozygous chromosome and one homozygous chromosome. Mitotic crossover is known to occur ... In either model, the chromosomes are not guaranteed to trade evenly, or even to rejoin on opposite sides thus most patterns of ... The resulting phenotype of the daughter cells depends on how the chromosomes line up on the metaphase plate. If the chromatids ...
Durkin, Sandra G.; Glover, Thomas W. (Dec 2007). "Chromosome Fragile Sites". Annual Review of Genetics. 41 (1): 169-192. doi: ... These sites are called fragile sites, and can occur commonly as naturally present in most mammalian genomes or occur rarely as ... Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrichs ... Although, seemingly harmful, these common fragile sites are conserved all the way to yeast and bacteria. These ubiquitous sites ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
19] Fragile sites may be DNA regions particularly sensitive to replicative stress. Evidence was recently presented of a crucial ... role for a helicase in protecting cells against chromosome breakage at normally occurring replication fork-stalling sites. ... Pirzio LM, Pichierri P, Bignami M, Franchitto A. Werner syndrome helicase activity is essential in maintaining fragile site ... All material on this website is protected by copyright, Copyright © 1994-2023 by WebMD LLC. This website also contains material ...
... chromosomes and cancer, chromosome breakage syndromes, and fragile sites on human chromosomes. ... This course covers chromosome structure and function, and it studies the role of chromosomes in human disease. Topics covered ... include cytogenetic methodology, types of chromosome aberration, ...
19] Fragile sites may be DNA regions particularly sensitive to replicative stress. Evidence was recently presented of a crucial ... role for a helicase in protecting cells against chromosome breakage at normally occurring replication fork-stalling sites. ... Pirzio LM, Pichierri P, Bignami M, Franchitto A. Werner syndrome helicase activity is essential in maintaining fragile site ... All material on this website is protected by copyright, Copyright © 1994-2023 by WebMD LLC. This website also contains material ...
Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Explore symptoms, ... When expanded, this region is known as the FRAXE fragile site.) As a result, the AFF2 gene is turned off (silenced), and no ... one of the two sex chromosomes. in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene ... Official websites use .gov. A .gov website belongs to an official government organization in the United States. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
CHROMOSOME FRAGILE SITES. CHROMOSOME FRAGILITY. MASTIGOMYCOTINA. CHYTRIDIOMYCOTA. PROPERDIN FACTOR B. COMPLEMENT FACTOR B. ...
Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977;197: ...
Multiple integration of SRS19-6MuLV into chromosomes around fragile sites accounts for its carcinogenic effects. ... Analysis of sequences by BLAST revealed that some of the integration sites were associated with common fragile sites and some ... In addition, the integration sites of SRS19-6MuLV in the positive cells were examined by inverse PCR. Thus, 7 integration sites ... Almost all the MGc80-3 cells exhibited HPV-18 fragments in the genome as well as certain HeLa marker chromosomes, such as M7 ...
A diagnosed inherited condition, caused by a fragile or broken site on the X chromosome, resulting in mental and physical ... Fragile X Syndrome. Gambling Disorder. Intellectual Disabilities. Klinefelters Syndrome. Learning Disabilities/Specific ... A diagnosed condition that occurs in boys who have an extra X chromosome in most of their cells. Klinefelters Syndrome is also ... The teaching strategies and resources on this website have been organized along three main lines. Related definitions, ...
10] Fragile sites may be DNA regions particularly sensitive to replicative stress. Evidence was recently presented of a crucial ... role for a helicase in protecting cells against chromosome breakage at normally occurring replication fork-stalling sites. ... Pirzio LM, Pichierri P, Bignami M, Franchitto A. Werner syndrome helicase activity is essential in maintaining fragile site ... All material on this website is protected by copyright, Copyright © 1994-2023 by WebMD LLC. This website also contains material ...
... whole chromosome arm deletions, marker chromosomes involving 9q12, a heterochromatic region known to be a fragile site, have ... In 1996 Weber et al succeeded to locate the gene for the Triple-A syndrome to chromosome 12q13 near the type II keratin gene ... However, no abnormality was found in the ACTH receptor gene, located on the short arm of chromosome 18 (18p11.2), which is ... Most commonly reported mutation is IVS 14 1 G A which leads to premature termination of predicted protein.19 Chromosome and/or ...
... identified microscopically by a constriction called fragile site on the long arm of chromosome X, considered the main inherited ... CRISTHIANE OLIVIA FERREIRA DO, Amaral et al. Physical and oral characteristics in patients with fragile X syndrome. Rev. Assoc ... Volunteers (n=31) with fragile X syndrome were submitted a structured form, physical and oral exam and the multidisciplinary ... Thus, we conclude that there are large variability among the characteristics expressed by individuals with the Fragile X ...
This case correponds to a six-year old child which presented a fragile site in the short arm of the chromosome 1 (region 2, ... The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33 ...
This site was built using the UW Theme , Privacy Notice , © 2024 Board of Regents of the University of Wisconsin System. ... 2011) Exploring the adult life of men and women with fragile X syndrome: results from a national survey. American Journal on ... People with Down syndrome have an increased risk for Alzheimers disease because they are born with three copies of chromosome ... Website feedback, questions or accessibility issues: [email protected].. Learn more about accessibility at UW-Madison. ...
11 fragile sites coincided with the 18 asbestos-associated regions (P = 0.08), which may imply preferentially caused DNA damage ... and an altered region in chromosome 2 seemed to occur more frequently in the asbestos-exposed patients. Array CGH revealed ... at these sites. Our findings are the first evidence, indicating that asbestos exposure may produce a specific DNA damage ...
Chromosome Fragile Sites. Sitios Frágiles del Cromosoma. H - CIÊNCIAS FÍSICAS. Português. Inglês. Espanhol. ... Chromosome Positioning. Posicionamiento de Cromosoma. G05 - Processos Genéticos. Epigênese Genética. Epigenesis, Genetic. ... DNA-(Apurinic or Apyrimidinic Site) Lyase. ADN-(Sitio Apurínico o Apirimidínico) Liasa. ...
Q99.2 Fragile X chromosome Q99.8 Other specified chromosome abnormalities Q99.9 "Chromosomal abnormality, unspecified" R00-R99 ... any site" D18.0 "Hemangioma, any site" D18.1 "Lymphangioma, any site" D19 Benign neoplasm of mesothelial tissue D19.0 Benign ... site unspecified " K27.0 "Peptic ulcer, site unspecified, acute with hemorrhage" K27.1 "Peptic ulcer, site unspecified, acute ... Q93.2 Chromosome replaced with ring or dicentric Q93.3 Deletion of short arm of chromosome 4 Q93.4 Deletion of short arm of ...
FXS is caused by a change in the fragile X mental retardation 1 (FMR1) gene. ... Chromosomes. Genes are found on chromosomes. Every human cell contains 23 pairs of chromosomes. People get their chromosomes ... Skip directly to site content Skip directly to page options Skip directly to A-Z link ... The chromosomes that form the 23rd pair are called the sex chromosomes. They decide if a person is male or female. Females have ...
Fragile X Syndrome - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version. ... Fragile X syndrome is second only to Down syndrome Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by ... Leave this Site? The link you have selected will take you to a third-party website. We do not control or have responsibility ... The symptoms of Fragile X syndrome are caused by an abnormality of a specific gene on the X chromosome ( see Gene abnormalities ...
Fieldwork Sites. Expand all. Prisma Health Midlands - Columbia, SC. Department of Obstetrics and Gynecology. Students are ... Chromosome conditions such as Down syndrome. Developmental delays and neurological problems, such as autism. Metabolic ... Weekly clinics include Cardiovascular genetics clinic, Fragile X syndrome clinic and Metabolic Disease clinic. Twice Monthly ... University of South Carolina Home Search University of South Carolina. University of South Carolina Navigation. ...
Females typically have two X chromosomes and males have one (they have a Y chromosome instead of a second X chromosome), which ... Contact us or schedule an appointment on our website. Share Tweet Share Email ... Expected to cause Fragile X syndrome in individuals with one X chromosomes and may cause symptoms in individuals with two X ... What is Fragile X Syndrome? Fragile X syndrome (FXS) is one of the most common causes of inherited intellectual disability due ...
FANCD2 Facilitates Replication through Common Fragile Sites. Mol. Cell 2016, 64, 388-404. [Google Scholar] [CrossRef] ... Chromosome Res. 2010, 18, 19-34. [Google Scholar] [CrossRef]. *Crabbé, L.; Thomas, A.; Pantesco, V.; De Vos, J.; Pasero, P.; ... As the checkpoint also senses perturbations when replicating repetitive sequences and fragile sites, or when replication ... Chromosome Res. 2010, 18, 163-178. [Google Scholar] [CrossRef]. *Guilbaud, G.; Rappailles, A.; Baker, A.; Chen, C.-L.; Arneodo ...
Double-strand breaks; Fragile sites; Human genome; Forum domains; HEK293T. Abstract. Constitutional biological processes ... Differences in sex chromosome copy numbers between sexes and X-chromosome inactivation in females result in distinctive sex- ... Double-strand breaks; Forum domains; Fragile sites; HEK293T; rDNA. Abstract. DNA breakage arises during a variety of biological ... The three remaining chromosome ends are provisionally placed. These ends represent duplication of entire chromosome ends ...
Our Planet Is Not Fragile By Walter Williams Published: 04 March 2019 Rep. Alexandria Ocasio-Cortez claims that "the world is ... Its no different from a person born with XY chromosomes declaring that he is a woman. The XY sex determination system is the ... Females typically have two of the same kind of sex chromosome (XX) and are called the homogametic sex. Males typically have two ... different kinds of sex chromosomes (XY) and are called the heterogametic sex. ...
Because the Y chromosome is only inherited from a biological male parent, the sequence of the Y chromosome can be used to trace ... Each gene may have a variety of genotypes, which are the variances that can occur within the site of a particular gene. Each ... However, DNA is a fragile molecule, and it degrades over time. For most fossil species, there is essentially no hope of ever ... One of those pairs of chromosomes are called sex chromosomes. Everyone gets some combination of X (male female parent) and Y ( ...
  • Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. (wikipedia.org)
  • This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. (wikipedia.org)
  • Gene abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
  • Genes are found on chromosomes. (cdc.gov)
  • The chromosomes and genes have a special code called DNA. (cdc.gov)
  • The author presents a theory that major genes controlling the growth of human intelligence, both left- and right-brain attributes, are on the X-chromosome. (bloomsbury.com)
  • L^L ^DBL Being on the X-chromosome, these genes, favorable or unfavorable, are not passed on from father to son, although they are passed on from father to daughter. (bloomsbury.com)
  • Fragile XE syndrome is caused by mutations in the AFF2 gene. (medlineplus.gov)
  • Nearly all cases of fragile XE syndrome occur when a region of the AFF2 gene, known as the CCG trinucleotide repeat, is abnormally expanded. (medlineplus.gov)
  • However, in people with fragile XE syndrome, the CCG segment is repeated more than 200 times, which makes this region of the gene unstable. (medlineplus.gov)
  • In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
  • In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no signs or symptoms at all. (medlineplus.gov)
  • sons receive a Y chromosome from their father, which does not include the AFF2 gene. (medlineplus.gov)
  • In addition to STR profiling, various approaches, including single nucleotide polymorphisms genotyping, polymerase chain reaction, screening for human papillomaviruses type 18 (HPV-18) fragment, chromosome karyotyping, pathological examination of xenografts, tissue-specific-90-gene expression signature and high-throughput RNA sequencing were used to determine the nature of MGc80-3. (bvsalud.org)
  • FXS is caused by a change (mutation) in the Fragile X Messenger Ribonucleoprotein 1 ( FMR1 ) gene. (cdc.gov)
  • The FMR1 gene is on the X chromosome. (cdc.gov)
  • To understand how FXS is inherited, it helps to know about the changes in the FMR1 gene that cause FXS and other fragile X-associated disorders . (cdc.gov)
  • A female has two copies of the FMR1 gene, one on each of her two X chromosomes. (cdc.gov)
  • A male has only one copy of the FMR1 gene on his only X chromosome, so the group a male is in is based on the number of CGG repeats in that one copy. (cdc.gov)
  • Inherited mutations in the FMR1 gene can impair the ability to make a functional FMRP protein which can lead to the symptoms of Fragile X. Features of FXS include developmental delay and intellectual disability, features of autism spectrum disorder, characteristic facial features, joint laxity, scoliosis, recurrent ear infections and other medical concerns. (geneticsupportfoundation.org)
  • For example, a mother could have one of her X chromosomes that has an FMR1 gene with 80 CGG repeats, but then when she passes it down to her daughter, it expands to 120 CGG repeats. (geneticsupportfoundation.org)
  • Mosquitoes, gene ( Ace-1R ), the target site of organophosphates and carbamates ( 5 ). (cdc.gov)
  • The target site mutation G119S in the Ace-1 gene ( Ace-1R ) resistance management strategies must reduce the current and L1014F and L1014S kdr mutations were screened by overreliance on pyrethroids. (cdc.gov)
  • Oligonucleotides used in gene therapy and silencing are fragile compounds that degrade easily in biological environments. (cipsm.de)
  • The study of chromosomes and gene expression of an organism can give insight into heredity, genetic variation, and mutations. (unistelmedical.co.za)
  • With artemisinin, the SNPs occurs at the Kelch 13-propeller gene locus on chromosome 13. (bvsalud.org)
  • The fragile X syndrome is a genetic disorder, identified microscopically by a constriction called fragile site on the long arm of chromosome X, considered the main inherited cause of mental disability associated with several neurological disorders. (bvsalud.org)
  • The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33). (bvsalud.org)
  • Females typically have two X chromosomes and males have one (they have a Y chromosome instead of a second X chromosome), which is why it is more common to see males affected with FXS than females (females basically have a back-up copy of the FMR1 gene, while males don't). (geneticsupportfoundation.org)
  • Most of these genetic causes (94%) are X chromosome abnormalities, including Turners-associated dysmorphic features, gonadal dysgenesis, and FMR1 anomalies. (medscape.com)
  • Although women with the full FMR1 mutation (Fragile X syndrome) do not have an increased risk of POI, those with the premutation (55-200 repeats) have a 13%-26% increased risk of developing POI, albeit no increased risk of intellectual disability. (medscape.com)
  • 8] A paper from 2010 reported 18 new mutations, including 2 genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and 2 rare missense mutations. (medscape.com)
  • Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ataxia, and Huntington's disease, most of which are caused by expansion of repeats at the DNA, RNA, or protein level. (wikipedia.org)
  • Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. (medlineplus.gov)
  • Fragile X syndrome is a genetic abnormality on the X chromosome that leads to intellectual disability and behavior problems. (msdmanuals.com)
  • Fragile X syndrome (FXS) is a genetic disorder. (cdc.gov)
  • She was rushed into neonatal intensive care immediately after birth with acute respiratory distress, and was diagnosed with Wolf-Hirschhorn Syndrome with Chromosome 4p deletion, an extremely rare genetic condition that can cause a variety of symptoms, including delayed growth and development, unusual facial features, seizures, and other congenital abnormalities. (spence-chapin.org)
  • Genetic counseling is recommended for those found to be carriers of fragile X syndrome in order to discuss individual risk to have an affected child, as well as any personal implications. (genpathdiagnostics.com)
  • Women who request fragile X carrier screening, regardless of family history, should be offered screening, after genetic counseling on the risks, benefits, and limitations of screening. (genpathdiagnostics.com)
  • Evidence was recently presented of a crucial role for a helicase in protecting cells against chromosome breakage at normally occurring replication fork-stalling sites. (medscape.com)
  • These sites are called fragile sites, and can occur commonly as naturally present in most mammalian genomes or occur rarely as a result of mutations, such as DNA-repeat expansion. (wikipedia.org)
  • We tested Anopheles gambiae mosquitoes from Côte d'Ivoire for resistance and screened a subset The Study for target site mutations. (cdc.gov)
  • Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally. (medlineplus.gov)
  • Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). (cdc.gov)
  • Females typically have two of the same kind of sex chromosome (XX) and are called the homogametic sex. (timesexaminer.com)
  • Fragile X syndrome is the most common cause of inherited intellectual disability, affecting approximately one in 3,600 males and one in 4,000-6,000 females. (genpathdiagnostics.com)
  • Approximately 50% of females affected with fragile X syndrome have borderline or mild intellectual disability. (genpathdiagnostics.com)
  • Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (msdmanuals.com)
  • Broadly, my research takes a biopsychosocial approach to understand the mechanisms that shape development in people with neurodevelopmental conditions such as Down syndrome, autism, and fragile x syndrome. (wisc.edu)
  • Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome. (medlineplus.gov)
  • It is unclear how a shortage of this protein leads to intellectual disability in people with fragile XE syndrome. (medlineplus.gov)
  • Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. (medlineplus.gov)
  • Usually, all cells in an individual in a given species (plant or animal) show a constant number of chromosomes, which constitute what is known as the karyotype defining this species (see also List of number of chromosomes of various organisms), although some species present a very high karyotypic variability. (wikipedia.org)
  • Sometimes, in a species with a stable karyotype, random variations that modify the normal number of chromosomes may be observed. (wikipedia.org)
  • July 22, 2022 is World Fragile X Syndrome Day, designated by the United States Congress in 2000 to raise awareness about Fragile X syndrome, the benefits of early diagnosis and to advocate for more research funding for treatment. (geneticsupportfoundation.org)
  • This case correponds to a six-year old child which presented a fragile site in the short arm of the chromosome 1 (region 2, band 2) during a routine cytogenetic study in peripheral blood. (bvsalud.org)
  • However, they may have a slightly higher chance of having some symptoms related to other fragile X-associated disorder s and may pass the slightly higher chance of having these disorders to their children. (cdc.gov)
  • This course covers chromosome structure and function, and it studies the role of chromosomes in human disease. (hu.edu.jo)
  • 8. Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. (bvsalud.org)
  • Every human cell contains 23 pairs of chromosomes. (cdc.gov)
  • They do not have FXS but they might have, or may later develop, other fragile X-associated disorder s. (cdc.gov)
  • People with different numbers of CGG repeats have different risks of developing fragile X-associated disorders and of having children with FXS. (cdc.gov)
  • While most eukaryotes have monocentric chromosomes, where spindle attachment is restricted to a single chromosomal region resembling such classic X-shape like structures under the microscope, many lineages have evolved holocentric chromosomes where spindle microtubules attach along the entire length of the chromosome. (activemotif.com)
  • Classic CGH showed, on average, more aberrations in asbestos-exposed than in nonexposed patients, and an altered region in chromosome 2 seemed to occur more frequently in the asbestos-exposed patients. (figshare.com)
  • Thus, we conclude that there are large variability among the characteristics expressed by individuals with the Fragile X syndrome, frequently these individuals have elongated face, prominent ears and mental retardation associated with oral problems such as malocclusion, atresic palate and enamel hypoplasia. (bvsalud.org)
  • These conditions are now identified by such terms as Renpenning syndrome, Martin-Bell syndrome, Fragile-X syndrome, and cultural-familial mental retardation. (bloomsbury.com)
  • People with Down syndrome have an increased risk for Alzheimer's disease because they are born with three copies of chromosome 21, rather than two. (wisc.edu)
  • When expanded, this region is known as the FRAXE fragile site. (medlineplus.gov)
  • This means that parents with the premutation have an increased risk of having a child with fragile XE syndrome. (medlineplus.gov)
  • However, individuals who have a premutation can be at a higher risk for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). (geneticsupportfoundation.org)
  • We have identified microdeletions and microduplications (loss and gain of small segments of chromosomes called copy number variants) that are associated with pregnancy loss. (equinepregnancylab.com)
  • We have recently identified two phenomena associated with early pregnancy failure in the mare: aneuploidy (loss of gain of a whole chromosome) and copy number variation (CNV) (small segments of chromosomes duplicated or deleted). (equinepregnancylab.com)
  • The first fossils to be called Neanderthals were found in 1856 in Germany, at a site in the Neander Valley (where Neanderthals get their name from). (si.edu)
  • Since 1995, Spence-Chapin has found adoptive families for more than 550 children who are medically fragile. (spence-chapin.org)
  • People get one of each pair of chromosomes from their mother and one of each pair from their father. (cdc.gov)
  • Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. (medlineplus.gov)
  • Almost all the MGc80-3 cells exhibited HPV-18 fragments in the genome as well as certain HeLa marker chromosomes, such as M7 and M12. (bvsalud.org)
  • Volunteers (n=31) with fragile X syndrome were submitted a structured form, physical and oral exam and the multidisciplinary form was analyzed. (bvsalud.org)
  • The chromosomes that form the 23rd pair are called the sex chromosomes. (cdc.gov)
  • Little does he know that he is a fragile receptacle for a miraculous and powerful life form that has been in existence for four million years. (williamemason.com)
  • Essential cookies help the website function by enabling functionality and remembering user choices. (activemotif.com)
  • The website will not function properly without them. (activemotif.com)
  • The aim of this study were analyzed physical and oral characteristics, medical problems and behavioral characteristics in patients with fragile X syndrome, and diffuse this syndrome among dentists. (bvsalud.org)
  • Dendritic spines are small protrusions extending from dendrites that are the main postsynaptic site of excitatory glutamatergic synapses in the brain. (biomedcentral.com)
  • The teaching strategies and resources on this website have been organized along three main lines. (teachspeced.ca)
  • For more information, see the National Fragile X Foundation . (msdmanuals.com)
  • People get their chromosomes from their parents. (cdc.gov)
  • Men (and sometimes women) who are carriers can develop fragile X-associated tremor/ataxia syndrome (FXTAS), an adult onset neurological condition. (genpathdiagnostics.com)
  • Approximately one in 259 women in the general population are carriers of fragile X syndrome. (genpathdiagnostics.com)