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Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI‐derived fetus with multiple abnormalities
Author(s) -
Seller Mary J.,
Bint Susan,
Kavalier Fred,
Brown Richard N.,
Ogilvie Caroline Mackie
Publication year - 2006
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.31214
Subject(s) - breakpoint , fluorescence in situ hybridization , karyotype , biology , monosomy , chromosomal rearrangement , chromosome , fetus , anatomy , intracytoplasmic sperm injection , genetics , infertility , pregnancy , gene
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.