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Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Turner syndrome is a chromosomal condition that alters development in females. … Turner syndrome is a chromosomal condition that alters development … turn out slightly at the elbow. A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting …
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 of multiple different antibodies that are associated with both arterial and venous thrombosis (clots in … on the skin, usually on the legs, and sometimes skin necrosis (a condition in which the skin tissue dies). Stroke …
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 …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
… Tumor Suppressor Gene … A tumor suppressor gene directs the production of a protein … … BRCA1, BRCA2, Cancer, Oncogene, Cell, Gene, Mutation … A tumor suppressor gene encodes a protein that acts to regulate …
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.
… WAGR syndrome is a rare genetic condition caused by a deletion of … for the first letters of the physical and mental problems associated with the condition: (W)ilms' Tumor, the most common form of kidney cancer in children. …
Talking Glossary
Environmental factors, as related to genetics, refers to exposures to substances (such as pesticides or industrial waste) where we live or work, behaviors (such as smoking or poor diet) that can increase an individual’s risk of disease or stressful situations (such as racism).
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring … caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features … perform aortic surgery. Recent work on Angiotensin II receptor blockers, another blood pressure medication like …
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.
… Cri du chat syndrome is a rare genetic condition that is caused by the … material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - … A health care provider may note the clinical symptoms associated with the condition. The cat-like cry is the most …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome is a disorder that involves unusual facial … and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that involves unusual facial … RADF1 and KRAS - are the only genes that are known to be associated with Noonan syndrome. Approximately 50 percent of …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … … Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s …