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Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.

作者信息

Seller Mary J, Bint Susan, Kavalier Fred, Brown Richard N, Ogilvie Caroline Mackie

机构信息

Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK.

出版信息

Am J Med Genet A. 2006 May 15;140(10):1102-7. doi: 10.1002/ajmg.a.31214.

Abstract

We describe a fetus from an intracytoplasmic sperm injection (ICSI) pregnancy with severe facial clefts, receding jaw, preauricular skin tags, postaxial hexadactyly, bi-lobed right lung, supernumerary cranial bone, and dilated lateral ventricles of the brain. Using a combination of G-banding, fluorescence in situ hybridization (FISH), whole chromosome paints (WCPs), subtelomere probes, and multicolor banding (MCB), the karyotype was found to include a de novo unbalanced highly complex chromosome rearrangement (hCCR) involving chromosomes 3, 12, and 15 with seven breakpoints, and including monosomy for two separate regions of chromosome 12.

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