Case Reports
doi: 10.1136/jmg.16.1.75.
The 9p-syndrome
- PMID: 469892
- PMCID: PMC1012787
- DOI: 10.1136/jmg.16.1.75
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Case Reports
The 9p-syndrome
J Med Genet.
1979 Feb.
Abstract
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.
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