Abstract
A 13-year old boy with 9p- 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 band 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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CITATION STYLE
APA
Funderburk, S. J., Sparkes, R. S., & Klisak, I. (1979). The 9p- syndrome. Journal of Medical Genetics, 16(1), 75–79. https://doi.org/10.1136/jmg.16.1.75
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