[A case of trisomy 19 mosaicism (author's transl)]
- PMID: 6971615
[A case of trisomy 19 mosaicism (author's transl)]
Abstract
Trisomy-19 mosaicism was observed in lymphocytes of a newborn male with facial dysmorphism (upward slanting palpebral fissures, pointed nose, short upper lip, prominent antitragus), laryngeal stridor, and leucothrombopenia, and who died on day 13. Autopsy revealed no other major malformation but poor development of the cerebral sulci.
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