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.
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation
β Scribed by Ramadevi, A. Radha ;Naik, Usha ;Dutta, Usha ;Srikanth, ;Prabhakara, K.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 116 KB
- Volume
- 113
- Category
- Article
- ISSN
- 0148-7299
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