PMID- 20684005
OWN - NLM
STAT- MEDLINE
DCOM- 20101215
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 9
DP  - 2010 Sep
TI  - Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions 
      at breakpoints.
PG  - 2327-34
LID - 10.1002/ajmg.a.33581 [doi]
AB  - Here we report on a girl with minor facial anomalies, cleft palate, seizures, 
      microcephaly, psychomotor retardation, and a congenital heart defect. Complex of 
      cytogenetic methods [GTG-banding, spectral karyotyping (SKY), fluorescence in 
      situ hybridization (FISH), multicolor banding (mBAND), and comparative genomic 
      hybridization (array CGH)] showed complex chromosomal rearrangements (CCRs) 
      involving chromosomes 6, 10, and 11 and 4 deletions at the breakpoints. Her 
      father had an unrelated translocation between chromosomes 3 and 16, suggesting 
      the possibility of an autosomal dominant trait that predisposes to complex 
      synapses and recombination between multiple chromosomes during meiosis. This 
      study demonstrates the power of combining available chromosome analysis 
      technologies in resolving CCR.
FAU - Lee, Ni-Chung
AU  - Lee NC
AD  - Department of Medical Genetics and Pediatrics, National Taiwan University 
      Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
FAU - Chen, Ming
AU  - Chen M
FAU - Ma, Gwo-Chin
AU  - Ma GC
FAU - Lee, Dong-Jay
AU  - Lee DJ
FAU - Wang, Tzu-Jou
AU  - Wang TJ
FAU - Ke, Yu-Yuan
AU  - Ke YY
FAU - Chien, Yin-Hsiu
AU  - Chien YH
FAU - Hwu, Wuh-Liang
AU  - Hwu WL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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
MH  - *Chromosome Aberrations
MH  - Chromosome Breakpoints
MH  - *Chromosomes, Human, Pair 10
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 6
MH  - Cytogenetic Analysis/*methods
MH  - Family
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - Male
MH  - Meiosis
MH  - Sequence Deletion
EDAT- 2010/08/05 06:00
MHDA- 2010/12/16 06:00
CRDT- 2010/08/05 06:00
PHST- 2010/08/05 06:00 [entrez]
PHST- 2010/08/05 06:00 [pubmed]
PHST- 2010/12/16 06:00 [medline]
AID - 10.1002/ajmg.a.33581 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Sep;152A(9):2327-34. doi: 10.1002/ajmg.a.33581.