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Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in … occurs in all racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … infertility. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent. This extra chromosomal DNA …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (APS) is a disorder characterized by elevated levels of multiple different antibodies that are associated with … syndrome, is a disorder characterized by elevated levels of multiple different antibodies (proteins produced by the … in the arteries and veins). There are two primary classes of antiphospholipid (aPL) antibodies, the antibodies …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies born with … and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- … condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… gene on the X chromosome. Because males have only one copy of the X chromosome, they are more likely to show severe … the mutated gene compared to females (who have two copies of the X chromosome). … Fragile X syndrome is a hereditary …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… … A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus … even in children, according to a National Institutes of Health study that sought only to determine the correct dose of the medicine. NIH's National Human Genome Research …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… and Public Liaison Branch … An international team of researchers has identified genomic mutations for … a small or retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. … The … protein myomaker. This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) …