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

M J Seller, S Bint, F Kavalier, R N Brown, C M Ogilve

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10 Citations (Scopus)


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 karyorype was found to include I 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. (c) 2006 Wiley-Liss, Inc
Original languageEnglish
Pages (from-to)1102 - 1107
Number of pages6
JournalAmerican Journal of Medical Genetics. Part A
Issue number10
Publication statusPublished - 15 May 2006

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