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Noonan and Down Syndrome Overview by Justine Ericca Reyes is a document available to read on EtoBox.

What is Noonan and Down Syndrome Overview about?

The document discusses two cases involving genetic conditions: Noonan syndrome and Down syndrome. For the first case, the baby was diagnosed with Noonan syndrome, which is caused by mutations in genes involved in cell signaling pathways. For the second case, the couple asked about the chances of Down syndrome given the family history. Down syndrome is caused by an extra copy of chromosome 21 and can be screened for through tests like maternal serum screening, NIPS, and diagnostic tests like karyotyping and

Author

Justine Ericca Reyes

Language

EN