Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities
✍ Scribed by Mary J. Seller; Susan Bint; Fred Kavalier; Richard N. Brown; Caroline Mackie Ogilvie
- Book ID
- 101454875
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 242 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
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. © 2006 Wiley‐Liss, Inc.