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Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

✍ Scribed by Ni-Chung Lee; Ming Chen; Gwo-Chin Ma; Dong-Jay Lee; Tzu-Jou Wang; Yu-Yuan Ke; Yin-Hsiu Chien; Wuh-Liang Hwu

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 398 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33581

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✦ Synopsis

Abstract

Here we report on a girl with minor facial anomalies, cleft palate, seizures, microcephaly, psychomotor retardation, and a congenital heart defect. Complex of cytogenetic methods [GTG‐banding, spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), multicolor banding (mBAND), and comparative genomic hybridization (array CGH)] showed complex chromosomal rearrangements (CCRs) involving chromosomes 6, 10, and 11 and 4 deletions at the breakpoints. Her father had an unrelated translocation between chromosomes 3 and 16, suggesting the possibility of an autosomal dominant trait that predisposes to complex synapses and recombination between multiple chromosomes during meiosis. This study demonstrates the power of combining available chromosome analysis technologies in resolving CCR. © 2010 Wiley‐Liss, Inc.

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