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Am J Med Genet. 1993 Jul 1;46(6):630-1.

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.

Author information

1
Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.

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.

PMID:
8362902
DOI:
10.1002/ajmg.1320460605
[Indexed for MEDLINE]

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