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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 … Turner syndrome is a chromosomal condition that alters development … this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), … not survive to term (miscarriages and stillbirths). Turner syndrome is a chromosomal condition related to the X …
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 … by the body to fight off foreign substances) that are associated with both arterial and venous thrombosis (clots in …
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 … A tumor suppressor gene encodes a protein that acts to regulate cell division, keeping it in check. When a tumor suppressor gene is inactivated by a mutation, the … A tumor suppressor gene directs the production of a protein …
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 … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome (also called Trisomy 21) is a genetic condition … disabilities and physical features characteristic of Down syndrome, which vary among individuals. …
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
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 … located on chromosome number 11. Babies born with WAGR syndrome often have eye problems, and are at high risk for … mental problems associated with the condition: (W)ilms' Tumor, the most common form of kidney cancer in children. …
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 … Marfan syndrome is one of the most common inherited disorders of … There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, … caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features …
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 … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the … The symptoms of cri du chat syndrome vary among individuals. The variability of the …
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 … Noonan syndrome is a disorder that involves unusual facial … and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has Noonan syndrome may have inherited an altered (mutated) gene from …
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. … Fragile X syndrome is a genetic condition that affects a person’s … their ability to learn and their social behavior. The syndrome results from mutations in a gene on the X … Fragile X syndrome is a hereditary disorder affecting mostly males. …