PMID- 16596677
OWN - NLM
STAT- MEDLINE
DCOM- 20060710
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 10
DP  - 2006 May 15
TI  - Multicolor banding detects a complex three chromosome, seven breakpoint 
      unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.
PG  - 1102-7
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 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.
FAU - Seller, Mary J
AU  - Seller MJ
AD  - Department of Medical and Molecular Genetics, King's College London School of 
      Medicine, Guy's Hospital, London, UK. mary.seller@gentics.kcl.ac.uk
FAU - Bint, Susan
AU  - Bint S
FAU - Kavalier, Fred
AU  - Kavalier F
FAU - Brown, Richard N
AU  - Brown RN
FAU - Ogilvie, Caroline Mackie
AU  - Ogilvie CM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Abortion, Eugenic
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/*methods
MH  - Chromosome Breakage/genetics
MH  - Female
MH  - Fetus/*abnormalities
MH  - Humans
MH  - Karyotyping
MH  - Pregnancy
MH  - *Sperm Injections, Intracytoplasmic
MH  - Translocation, Genetic/genetics
EDAT- 2006/04/06 09:00
MHDA- 2006/07/13 09:00
CRDT- 2006/04/06 09:00
PHST- 2006/04/06 09:00 [pubmed]
PHST- 2006/07/13 09:00 [medline]
PHST- 2006/04/06 09:00 [entrez]
AID - 10.1002/ajmg.a.31214 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 May 15;140(10):1102-7. doi: 10.1002/ajmg.a.31214.