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Shvoong Home>Books>DOWNS YSNDROME-REVIEW Review

DOWNS YSNDROME-REVIEW

Book Review   by:dr jp     Original Author: DR JAYAPRAKASH K P
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Downs syndrome
is the most common autosomal chromosome disorder..it is caused by nondysjunction < failure to seperate chromosome at meosis- a form of cell division>during oogenesis.This syndrome is common witth increasing maternal age.around5% occur due to traslocation< tranfer of chromosome material from one chromosome to other,chr14 and 21another 1% is due to mosaicism < amixture of trisomy 21and karyotypically normal cells>'

CLINICAL FEATURE :brachycephly,upslanting of eyes,epicanthic folds, protruded tongue,single plantar crease,incurved fingers ,wide gap between 1st and 2nd toes,hypotonia, mental retardation
other feature include
@cardiovascular malformationsin 40% -atrioventricular septal defects
@duodenal atresia,hirschsprungs disease
@acute lymphoblastic leukemia, acute myeloblastic leukemia nad trasient abnormal myelopoiesis
@hypothyroidism
@alzheimiers disese in majority by 40 years
downs syndrome can be diagnosed antenatally with maternal screening using, alpha foeo protein<14-16 wks>,UE3,HCGand PAPP-A,AMNIOTIC FLUID STUDIES,CHORIONIC VILLOUS SAMPLING,ULTRA SOUND AT 11-20 WKS ARE ALSO USEFUL.

MESSAGE FOR PARENTS
* it is a life long problem
*many downs children attain high level of functioning and independence
*address medical and developmental problems
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