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