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Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints
Author(s) -
Lee NiChung,
Chen Ming,
Ma GwoChin,
Lee DongJay,
Wang TzuJou,
Ke YuYuan,
Chien YinHsiu,
Hwu WuhLiang
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33581
Subject(s) - breakpoint , genetics , biology , evolutionary biology , computational biology , chromosome , gene
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.