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Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia
1Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.
American Journal of Medical Genetics
|July 1, 1993
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.