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De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation

✍ Scribed by Hakan Ulucan; Rıdvan Akın; Mehmet Kösem; Davut Gül

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
102 KB
Volume
140A
Category
Article
ISSN
1552-4825

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✦ Synopsis

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.

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