PMID- 15054834
OWN - NLM
STAT- MEDLINE
DCOM- 20040423
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 126A
IP  - 3
DP  - 2004 Apr 30
TI  - Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: 
      Evidence for predominant inactivation of the derivative X chromosome in a girl 
      with multiple malformations.
PG  - 229-36
AB  - We report on the characterization of a de novo, apparently balanced translocation 
      t(X;15)(p11.3;q26) detected in a girl with multiple congenital malformations. 
      Replication banding studies on Epstein-Barr virus transformed peripheral blood 
      lymphocytes revealed non-random X chromosome inactivation with predominant 
      inactivation of the derivative X chromosome. Using chromosomal fluorescence in 
      situ hybridization (FISH), we located the breakpoints to a 30 kb region on the 
      short arm of the X chromosome band p11.3 and to a 160 kb region defined by BAC 
      RP11-89K11 on the long arm of chromosome 15. Our data suggest that the 
      disruption/disturbance of plant homeo domain (PHD) zinc finger gene KIAA0215 or 
      of another gene (RGN, RNU12, P17.3, or RBM10) in the breakpoint region on the X 
      chromosome is not well tolerated and leads to the selection of cells with an 
      active non-rearranged X chromosome.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Glaser, B
AU  - Glaser B
AD  - Institute of Human Genetics, Gottingen, Germany.
FAU - Shirneshan, K
AU  - Shirneshan K
FAU - Bink, K
AU  - Bink K
FAU - Wirth, J
AU  - Wirth J
FAU - Kehrer-Sawatzki, H
AU  - Kehrer-Sawatzki H
FAU - Bartz, U
AU  - Bartz U
FAU - Zoll, B
AU  - Zoll B
FAU - Bohlander, Stefan K
AU  - Bohlander SK
LA  - eng
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  - Chromosome Banding
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Genes, Recessive/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - *Sex Chromosome Aberrations
MH  - Translocation, Genetic/*genetics
EDAT- 2004/04/01 05:00
MHDA- 2004/04/24 05:00
CRDT- 2004/04/01 05:00
PHST- 2004/04/01 05:00 [pubmed]
PHST- 2004/04/24 05:00 [medline]
PHST- 2004/04/01 05:00 [entrez]
AID - 10.1002/ajmg.a.20584 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Apr 30;126A(3):229-36. doi: 10.1002/ajmg.a.20584.