Down syndrome infant in NICU
While a fourth year medical student on an elective in
Pediatrics, you are asked to see a newborn infant with
Down syndrome (Trisomy 21). Before going to see the
infant you seek information about this condition by
using OMIM
– On-Line Mendelian Inheritance in Man.
Go to OMIM:
- Search the OMIM database for: Down Syndrome
- Look up clinical synopsis, text, genetic defect
and treatment of DS gene.
- While reviewing this site you find information about
diagnosis, clinical features of trisomy 21, and critical
regions of the 21 chromosome thought to be important
for certain features seen in Down syndrome.
You now feel better prepared to examine the infant
and to take a family history. You are also able to answer
questions that the family may have about the etiology
and the clinical manifestations. The parents ask you
about support groups and you point them to an on-line
Down syndrome support group (www.ndss.org).
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