TY - JOUR
T1 - Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities
AU - Seller, M J
AU - Bint, S
AU - Kavalier, F
AU - Brown, R N
AU - Ogilve, C M
PY - 2006/5/15
Y1 - 2006/5/15
N2 - 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
AB - 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
U2 - 10.1002/ajmg.a.31214
DO - 10.1002/ajmg.a.31214
M3 - Article
SN - 1552-4833
VL - 140A
SP - 1102
EP - 1107
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 10
ER -