Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood.
Partial distal 1q trisomy (1q32 leads to 1qter) is reported in a 19 year-old deeply mentally handicapped girl. The dysmorphic stigmata in this patient are strikingly similar to those found in the two previously reported adult individuals, which were trisomic for the same segment of 1q.
D000328:Adult; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D014314:Trisomy