Down syndrome
From BugSigDB
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004
- Aliases
- Complete trisomy 21 syndrome
- complete trisomy 21 syndrome
- Complete trisomy 21 syndrome (disorder)
- Down syndrome
- Down syndrome
- Down syndrome chromosome region
- Down syndrome critical region
- Down Syndrome, Partial Trisomy 21
- DOWN'S SYNDROME
- Down's syndrome
- Down's syndrome - trisomy 21
- Down's syndrome NOS
- Down's syndrome NOS (disorder)
- Downs Syndrome
- Downs syndrome
- G Trisomy
- G trisomy
- leukemia, megakaryoblastic, of Down syndrome
- Mongolism
- Partial Trisomy 21 Down Syndrome
- Syndrome, Down
- Syndrome, Down's
- T21 - Trisomy 21
- transient myeloproliferative disorder of Down syndrome
- Trisomy 21
- trisomy 21
- trisomy 21 (Down syndrome)
- Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome
- Trisomy 21 NOS
- trisomy 21 syndrome
- Trisomy 21, Meiotic Nondisjunction
- Trisomy 21, Mitotic Nondisjunction
