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標題: Complex Rearrangements Between Chromosomes 6, 10, and 11 With Multiple Deletions at Breakpoints
作者: Lee, N.C.
Chen, M.
Ma, G.C.
Lee, D.J.
Wang, T.J.
Ke, Y.Y.
Chien, Y.H.
Hwu, W.L.
關鍵字: complex chromosome rearrangement;chromosome recombination, array;comparative genomic hybridization;multicolor banding;congenital-anomalies;digeorge-syndrome;partial monosomy;recombination;translocation;definition;phenotype;mechanism;girl;ccr
Project: American Journal of Medical Genetics Part A
期刊/報告no:: American Journal of Medical Genetics Part A, Volume 152A, Issue 9, Page(s) 2327-2334.
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. (C) 2010 Wiley-Liss, Inc.
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33581
Appears in Collections:期刊論文

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