Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia
β Scribed by Nienhaus, H. ;Mau, U. ;Zang, K. D. ;Henn, W.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 179 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Amniocentesis on a 32-year-old woman at risk for trisomy 21 by maternal serum triple screen showed a 46,Y,inv(X) (p22.1q24) karyotype in all cells analyzed. A blood sample was obtained from the mother for cytogenetic evaluation. Since she had the same inversion, DNA replication studies were performe
De novo inversions may cause severe phenotypic effects on an individual, if the breakpoint(s) involves critical genetic regions [Kleczkowska et al., 1987]. We present a pericentric inv(5) in a patient with mental retardation and craniofacial anomalies, including microtia with meatal atresia.
Cleidocranial dysplasia (CCD) is a generalized skeletal dysplasia with autosomal dominant inheritance. Recently, the CCD disease locus was localized to 23 [Mundlos et al., 19951 and 17 cM regions [Feldman et al., 19951, of chromosome band 6p21 by linkage studies of seven affected families. Of note,