The 9p-syndrome.
A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011629:Puberty, Precocious / Q000235:genetics; D013577:Syndrome