PMID- 17981816
OWN - NLM
STAT- MEDLINE
DCOM- 20080312
LR  - 20171116
IS  - 1460-2350 (Electronic)
IS  - 0268-1161 (Linking)
VI  - 23
IP  - 1
DP  - 2008 Jan
TI  - Cryptic Xp duplication including the SHOX gene in a woman with 46,X, 
      del(X)(q21.31) and premature ovarian failure.
PG  - 222-6
AB  - BACKGROUND: Premature ovarian failure (POF) is defined as amenorrhoea for >6 
      months, occurring before the age of 40, with an FSH serum level in the menopausal 
      range. Although Xq deletions have been known for a long time to be associated 
      with POF, the mechanisms involved in X deletions in order to explain ovarian 
      failure remain unknown. In order to look for potentially cryptic chromosomal 
      imbalance, we used high-resolution genomic analysis to characterize X chromosome 
      deletions associated with POF. METHODS: Three patients with POF presenting 
      terminal Xq deletions detected by conventional cytogenetics were included in the 
      study. Genome wide microarray comparative genomic hybridization (CGH) at a 
      resolution of 1 Mb and fluorescence in situ hybridization (FISH) was performed. 
      RESULTS: Microarray CGH and FISH studies characterized the three deletions as 
      del(X)(q21.2), del(X)(q21.31) and del(X)(q22.33). Microarray CGH showed that the 
      del(X)(q21.31) was also associated with a Xpter duplication including the SHOX 
      gene. In these patients with POF, deletions or duplications of autosomes have 
      been excluded. CONCLUSION: This study is the first one using microarray in 
      patients with POF. It demonstrates that putative X chromosome deletions can be 
      associated with other chromosomal imbalances such as duplications, and therefore 
      illustrates the use of microarray CGH to screen chromosomal abnormalities in 
      patients with POF.
FAU - Tachdjian, Gerard
AU  - Tachdjian G
AD  - Service de Biologie et Genetique de la Reproduction, Inserm U782, Universite 
      Paris 11, Hopital A Beclere, Clamart, France.
FAU - Aboura, Azzedine
AU  - Aboura A
FAU - Portnoi, Marie-France
AU  - Portnoi MF
FAU - Pasquier, Maud
AU  - Pasquier M
FAU - Bourcigaux, Nathalie
AU  - Bourcigaux N
FAU - Simon, Tabassome
AU  - Simon T
FAU - Rousseau, Ghislaine
AU  - Rousseau G
FAU - Finkel, Lina
AU  - Finkel L
FAU - Benkhalifa, Moncef
AU  - Benkhalifa M
FAU - Christin-Maitre, Sophie
AU  - Christin-Maitre S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20071101
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Nucleic Acid Hybridization
MH  - Oligonucleotide Array Sequence Analysis
MH  - Primary Ovarian Insufficiency/*genetics
MH  - Short Stature Homeobox Protein
EDAT- 2007/11/06 09:00
MHDA- 2008/03/13 09:00
CRDT- 2007/11/06 09:00
PHST- 2007/11/06 09:00 [pubmed]
PHST- 2008/03/13 09:00 [medline]
PHST- 2007/11/06 09:00 [entrez]
AID - dem358 [pii]
AID - 10.1093/humrep/dem358 [doi]
PST - ppublish
SO  - Hum Reprod. 2008 Jan;23(1):222-6. doi: 10.1093/humrep/dem358. Epub 2007 Nov 1.