These medical condition or symptom topics may be relevant to medical information for Familial Down Syndrome:
Familial Down Syndrome: Type of or association with medical condition Down Syndrome.
»Introduction: Down Syndrome
Familial Down Syndrome: Familial Down Syndrome is listed as a type of (or associated with) the following medical conditions in our database:
Down Syndrome (medical condition): A chromosome syndrome causing physical effects and mental retardation.
Down Syndrome (medical condition): A genetic chromosomal syndrome affecting physical features and usually causing mental retardation. It is caused by having an extra third copy of chromosome 21, usually by a random error in the mother's egg, though a small percentage are familial such as Translocation Down Syndrome (~4-5%) and occur from a chromosomal defect in a parent. Mosaic Down Syndrome occurs around 1% and has milder effects as the patient has a mixture of both normal and trisomy cells. Down Syndrome can be diagnosed prenatally in the womb during pregnancy using several different tests including ultrasound, amniocentesis and CVS. Diagnosis after birth can usually be made from physical and facial features.
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