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Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial … appearance (numbers vary depending on the individual's ethnic and racial background), learning problems (~90 …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane … the other. Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction … eyes, kidneys and nervous system, as well as: Okihiro's syndrome, an association of DS with forearm malformation …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in … and by facial analysis technology, developed by Children's National Health System, and published their results in the … ) and high blood pressure. The cover of this month's issue of the American Journal of Medical Genetics …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … an extra number 21 chromosome in only some of their body's cells. This type of Down syndrome is called mosaic Down … … Treatment for Down syndrome is based on the person's physical problems and intellectual challenges. Many babies …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual … racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 …
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.
… Klinefelter syndrome is a condition that occurs in men as a result of an … Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Turner syndrome is a chromosomal condition that alters development … are another symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and … Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels … (conditions caused by an immune response against the body's own tissues). Individuals with aPL antibodies sometimes … Graves' disease, autoimmune hemolytic anemia, and Evan's syndrome. … A diagnosis of APS is made based on both …