[A case of trisomy 19 mosaicism (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002903:Chromosomes, Human, 19-20; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D014314:Trisomy
Sur un cas de trisomie 19 en mosaïque.