Seller Mary J, Bint Susan, Kavalier Fred, Brown Richard N, Ogilvie Caroline Mackie
Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK.
Am J Med Genet A. 2006 May 15;140(10):1102-7. doi: 10.1002/ajmg.a.31214.
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.