title: Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.
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.
authors.affiliation: Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Nienhaus
authors.forename: U
authors.initials: U
authors.lastname: Mau
authors.forename: K D
authors.initials: KD
authors.lastname: Zang
authors.forename: W
authors.initials: W
authors.lastname: Henn
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002896:Chromosomes, Human, Pair 6; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008297:Male