Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.
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.
Seller
Mary J
MJ
Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK. mary.seller@gentics.kcl.ac.uk
Bint
Susan
S
Kavalier
Fred
F
Brown
Richard N
RN
Ogilvie
Caroline Mackie
CM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000025:Abortion, Eugenic; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods*; D019457:Chromosome Breakage / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic / Q000235:genetics