PMID- 21530964
OWN - NLM
STAT- MEDLINE
DCOM- 20110728
LR  - 20110523
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 95
IP  - 7
DP  - 2011 Jun
TI  - Complex X chromosome rearrangement delineated by array comparative genome 
      hybridization in a woman with premature ovarian insufficiency.
PG  - 2433.e9-15
LID - 10.1016/j.fertnstert.2011.03.082 [doi]
AB  - OBJECTIVE: To investigate candidate genes affected by a complex X chromosome 
      rearrangement that may play a role in the diagnosis of spontaneous premature 
      ovarian insufficiency (POI). DESIGN: Prospective cytogenetic analysis, 
      fluorescence in situ hybridization (FISH) analysis and oligonucleotide array 
      comparative genome hybridization (CGH). SETTING: University medical center. 
      PATIENT(S): A 36-year-old woman with POI found to have a highly rearrangement X 
      chromosome. INTERVENTION(S): FISH analysis and oligonucleotide array CGH. MAIN 
      OUTCOME MEASURE(S): Oligonucleotide microarray analysis to detect duplicated, 
      deleted, or translocated regions of the X chromosome. RESULT(S): Complex 
      rearrangement of the X chromosome involving >/=12 breakpoints resulting in two 
      deletions, four duplications, and several intrachromosomal translocations. At 
      least 13 genes with possible relevance to POI may be affected by the 
      rearrangement. CONCLUSION(S): Array CGH can reveal candidate genes that may have 
      essential roles in fertility and POI.
CI  - Copyright (c) 2011 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Ochalski, Melanie E
AU  - Ochalski ME
AD  - Department of Obstetrics, Gynecology, and Reproductive Sciences, University of 
      Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
FAU - Engle, Natalie
AU  - Engle N
FAU - Wakim, Anthony
AU  - Wakim A
FAU - Ravnan, Britt J
AU  - Ravnan BJ
FAU - Hoffner, Lori
AU  - Hoffner L
FAU - Rajkovic, Aleksandar
AU  - Rajkovic A
FAU - Surti, Urvashi
AU  - Surti U
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20110429
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Chromosome Breakpoints
MH  - Chromosome Deletion
MH  - Chromosome Duplication
MH  - *Chromosomes, Human, X
MH  - *Comparative Genomic Hybridization
MH  - Female
MH  - Fertility/*genetics
MH  - *Gene Rearrangement
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis
MH  - Ovulation/*genetics
MH  - Phenotype
MH  - Primary Ovarian Insufficiency/*genetics/physiopathology
MH  - Translocation, Genetic
EDAT- 2011/05/03 06:00
MHDA- 2011/07/29 06:00
CRDT- 2011/05/03 06:00
PHST- 2011/02/07 00:00 [received]
PHST- 2011/03/21 00:00 [revised]
PHST- 2011/03/23 00:00 [accepted]
PHST- 2011/05/03 06:00 [entrez]
PHST- 2011/05/03 06:00 [pubmed]
PHST- 2011/07/29 06:00 [medline]
AID - S0015-0282(11)00512-7 [pii]
AID - 10.1016/j.fertnstert.2011.03.082 [doi]
PST - ppublish
SO  - Fertil Steril. 2011 Jun;95(7):2433.e9-15. doi: 10.1016/j.fertnstert.2011.03.082. 
      Epub 2011 Apr 29.