Introduction: Down Syndrome


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Down Syndrome: 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.

Researching symptoms of Down Syndrome: Further information about the symptoms of Down Syndrome is available including a list of symptoms of Down Syndrome, other diseases that might have similar symptoms in differential diagnosis of Down Syndrome, or alternatively return to research other symptoms in the symptom center.

Misdiagnosis and Down Syndrome: Research more detailed information about misdiagnosis of Down Syndrome, or research misdiagnosis of other diseases

Treatments for Down Syndrome: Various information is available about treatments available for Down Syndrome, current research about Down Syndrome treatments, or research treatments for other diseases.

Statistics and Down Syndrome: Various sources and calculations are available in statistics about Down Syndrome, prevalence and incidence statistics for Down Syndrome, and you can also research other medical statistics in our statistics center.

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