First report of mosaic trisomy 12 in a liveborn individual.
Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a "complete" trisomy 12 in a liveborn individual.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D009030:Mosaicism; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000209:etiology / Q000235:genetics; D014314:Trisomy