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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 … The most common symptom is infertility. … Klinefelter syndrome is a condition that occurs in men as a result of an … characteristics of their gender. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). …
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 … this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), …
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 … (clots in the arteries and veins). … Antiphospholipid syndrome (APS), also known as antiphospholipid antibody syndrome and sometimes Hughes syndrome, is a disorder …
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 … once in every 10,000 to 20,000 individuals. … 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, …
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 … certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both …
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 - is a rare genetic condition …
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 … and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal …
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 …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… of lesions and pain experienced by people with Proteus syndrome, a rare genomic disease. The drug, miransertib, was … the drug had a beneficial effect on symptoms of Proteus syndrome," said Leslie Biesecker, M.D., chief of the NHGRI … discovered the gene variant responsible for Proteus syndrome in 2011. "The results were so encouraging that we …