PMID: 469892Feb 1, 1979Paper

The 9p-syndrome

Journal of Medical Genetics
S J FunderburkI Klisak


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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Oct 1, 1976·Journal of Medical Genetics·A Daniel, P R Lam-Po-Tang
Feb 9, 1974·Lancet·M B Jenkins, W J O'Rourke
Aug 17, 1974·Lancet·A Forabosco, B Dallapiccola
Jan 1, 1971·Humangenetik·I SubrtO Táborský
Mar 1, 1966·Clinica Chimica Acta; International Journal of Clinical Chemistry·E Beutler, M C Baluda

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