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Last Update: 11/18/2023 09:08 PM

Current Deck: Jack's EPPP flashcards (in progress)::Jack Condensed EPPP

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Lifespan: Prenatal Development: What it is/Prevalence/Symptoms/Etiology
Down Syndrome: Trisomy-21 (Regular and standard Trisomy 21)
Back
Autosomal disorder, abnormality on a chromosome that's not a sex chromosome

Trisomy 21 
(Regular and standard Trisomy 21)
Accounts for 95% of all cases of Down syndrome

Due to presence of an extra 21 chromosome in all cells of the body so that each cell contains 47 (instead of usual 46) chormosomes.

Symptoms:
The symptoms of Down syndrome include intellectual disability (usually mild to moderate); hypotonia (decreased muscle tone); a short stocky build; a wide face, thick tongue, and almond-shaped eyes; developmental delays; and an elevated risk for vision and hearing problems, heart defects, hypothyroidism, and Alzheimer’s disease. 


Etiology:
With regard to etiology, trisomy 21 and mosaic trisomy 21 are both caused by an error during cell division. Also, older maternal age increases the risk of having a baby with trisomy 21 and possibly mosaic trisomy 21, with the risk increasing sharply after 30 years of age. (Research on paternal age and risk for Down syndrome has produced inconsistent results.) 

In contrast, the risk for translocation trisomy 21 is not affected by maternal age, and it can be due to an error during cell division or can be inherited from a parent carrier: When a parent is a carrier and has one child with translocation trisomy 21, there’s a risk that the parent will have another child with this disorder. In addition, relatives of a person who carries the translocation may also have the translocation and be at increased risk of having children with this disorder (Nussbaum, McInnes, & Willard, 2007).



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