PMID- 19646676
OWN - NLM
STAT- MEDLINE
DCOM- 20090923
LR  - 20211020
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 85
IP  - 2
DP  - 2009 Aug
TI  - Skewed X chromosome inactivation and trisomic spontaneous abortion: no 
      association.
PG  - 179-93
LID - 10.1016/j.ajhg.2009.07.002 [doi]
AB  - Several studies suggest that highly skewed X chromosome inactivation (HSXI) is 
      associated with recurrent spontaneous abortion. We hypothesized that this 
      association reflects an increased rate of trisomic conceptions due to anomalies 
      on the X chromosome that lead both to HSXI and to a diminished oocyte pool. We 
      compared the distribution of X chromosome inactivation (XCI) skewing percentages 
      (range: 50%-100%) among women with spontaneous abortions in four karyotype 
      groups-trisomy (n = 154), chromosomally normal male (n = 43), chromosomally 
      normal female (n = 38), nontrisomic chromosomally abnormal (n = 61)-to the 
      distribution for age-matched controls with chromosomally normal births (n = 388). 
      In secondary analyses, we subdivided the nontrisomic chromosomally abnormal 
      group, divided trisomies by chromosome, and classified women by reproductive 
      history. Our data support neither an association of HSXI with all trisomies nor 
      an association of HSXI with chromosomally normal male spontaneous abortions. We 
      also find no association between HSXI and recurrent abortion (n = 45).
FAU - Warburton, Dorothy
AU  - Warburton D
AD  - Department of Genetics and Development, Columbia University, New York, NY 10032, 
      USA. dw9@columbia.edu
FAU - Kline, Jennie
AU  - Kline J
FAU - Kinney, Ann
AU  - Kinney A
FAU - Yu, Chih-Yu
AU  - Yu CY
FAU - Levin, Bruce
AU  - Levin B
FAU - Brown, Stephen
AU  - Brown S
LA  - eng
GR  - R01 HD042745/HD/NICHD NIH HHS/United States
GR  - R01 HD 42725/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20090730
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Abortion, Habitual/*genetics
MH  - Abortion, Spontaneous/*genetics
MH  - Case-Control Studies
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Risk Assessment
MH  - *Trisomy
MH  - *X Chromosome Inactivation
PMC - PMC2725233
EDAT- 2009/08/04 09:00
MHDA- 2009/09/24 06:00
PMCR- 2010/02/14
CRDT- 2009/08/04 09:00
PHST- 2009/03/26 00:00 [received]
PHST- 2009/06/29 00:00 [revised]
PHST- 2009/07/01 00:00 [accepted]
PHST- 2009/08/04 09:00 [entrez]
PHST- 2009/08/04 09:00 [pubmed]
PHST- 2009/09/24 06:00 [medline]
PHST- 2010/02/14 00:00 [pmc-release]
AID - S0002-9297(09)00293-6 [pii]
AID - AJHG431 [pii]
AID - 10.1016/j.ajhg.2009.07.002 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2009 Aug;85(2):179-93. doi: 10.1016/j.ajhg.2009.07.002. Epub 2009 
      Jul 30.