Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia
- 1 July 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 46 (6) , 630-631
- https://doi.org/10.1002/ajmg.1320460605
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.Keywords
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