Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.
作者信息
Nienhaus H, Mau U, Zang K D, Henn W
机构信息
Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.
出版信息
Am J Med Genet. 1993 Jul 1;46(6):630-1. doi: 10.1002/ajmg.1320460605.
PMID:8362902
Abstract
We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the chromosomal disorder and the CCD.
摘要
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