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The 9p-syndrome.

S J Funderburk·R S Sparkes·I Klisak
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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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Abnormalities, MultipleAdolescentChromosome DeletionChromosomes, Human, 6-12 and XFingersHumansIntellectual DisabilityMalePuberty, PrecociousSyndromeCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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S J Funderburk, R S Sparkes, I Klisak. 1979. The 9p-syndrome.. https://doi.org/10.1136/jmg.16.1.75

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