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Pericentric inversion in chromosome No.2 as a de novo mutation

✍ Scribed by Ulla Hesselbjerg; Ursula Friedrich

Publisher
Springer
Year
1979
Tongue
English
Weight
262 KB
Volume
53
Category
Article
ISSN
0340-6717

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✦ Synopsis

A patient with a de novo inversion of chromosome 2 is described. Two of her three children have the same inversion.

πŸ“œ SIMILAR VOLUMES

De novo pericentric inversion of chromos
De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation
✍ Hakan Ulucan; RΔ±dvan AkΔ±n; Mehmet KΓΆsem; Davut GΓΌl πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 102 KB πŸ‘ 3 views

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.