Mosaic trisomy 9: two additional cases.
Two unrelated patients were found to be mosaic for an extra chromosome 9 (46,XX/47,XX,+9). The first patient showed a prominent nose, deep set eyes, carp shaped mouth and complex congenital cardiac anomalies. She died of congestive cardiac failure at the age of 10 days. The second patient, was a 7 1/2 year old female who had persistent alacrimia and mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006330:Heart Defects, Congenital / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D009030:Mosaicism; D014314:Trisomy