PMID- 16751643
OWN - NLM
STAT- MEDLINE
DCOM- 20070130
LR  - 20101118
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 21
IP  - 9
DP  - 2006 Sep
TI  - Molecular cytogenetic studies of Xq critical regions in premature ovarian failure 
      patients.
PG  - 2329-34
AB  - BACKGROUND: Premature ovarian failure (POF) is defined as amenorrhoea for more 
      than 6 months, occurring before the age of 40, with an FSH serum level higher 
      than 40 mIU/ml. Cytogenetically visible rearrangements of the X chromosome are 
      associated with POF. Our hypothesis was that cryptic Xq chromosomal 
      rearrangements could be an important etiological contributor of POF. METHODS: 
      Ninety POF women were recruited and compared to 20 control women. Peripheral 
      blood samples were collected and metaphase chromosomes were prepared using 
      standard cytogenetic methods. To detect Xq chromosomal micro-rearrangements, 
      fluorescence in situ hybridization (FISH) analysis was performed using a 
      selection of 30 bacterial artificial chromosome (BAC) and P1 artificial 
      chromosome clones, spanning Xq13-q27. We further localized the translocation 
      breakpoints by FISH with additional BAC clones. RESULTS: Chromosomal 
      abnormalities were identified in 8.8% of our 90 patients [one triple X, three 
      large Xq deletions 46,X,del(X)(q22.3), 46,X,del(X)(q21.2) and 
      46,X,del(X)(q21.32), two balanced X;autosome translocations 46,X,t(X;1) 
      (q21.1;q32) and 46,X,t(X;9)(q21.31;q21.2) and two Robertsonian translocations 
      45,XX,der(15;22)(q10;q10) and 45,XX,der(14;21)(q10;q10)]. The two Xq 
      translocation breakpoints were among a cluster of repetitive elements without any 
      known genes. FISH analysis did not reveal any Xq chromosomal micro-rearrangement. 
      CONCLUSIONS: Karyotyping is definitely helpful in the evaluation of POF patients. 
      No submicroscopic chromosomal rearrangements affecting Xq region were identified. 
      Further analysis using DNA microarrays should help delineate Xq regions involved 
      in POF.
FAU - Portnoi, M F
AU  - Portnoi MF
AD  - Laboratoire de cytogenetique, Hopital Saint-Antoine, Paris, France.
FAU - Aboura, A
AU  - Aboura A
FAU - Tachdjian, G
AU  - Tachdjian G
FAU - Bouchard, P
AU  - Bouchard P
FAU - Dewailly, D
AU  - Dewailly D
FAU - Bourcigaux, N
AU  - Bourcigaux N
FAU - Frydman, R
AU  - Frydman R
FAU - Reyss, Anne-Celine
AU  - Reyss AC
FAU - Brisset, Sophie
AU  - Brisset S
FAU - Christin-Maitre, S
AU  - Christin-Maitre S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060603
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
RN  - 9002-68-0 (Follicle Stimulating Hormone)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Chromosome Aberrations
MH  - Chromosomes, Artificial, Bacterial/metabolism
MH  - Chromosomes, Human, X/*ultrastructure
MH  - Cytogenetics
MH  - Female
MH  - Follicle Stimulating Hormone/biosynthesis
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Middle Aged
MH  - Models, Genetic
MH  - Primary Ovarian Insufficiency/*genetics
MH  - Translocation, Genetic
EDAT- 2006/06/06 09:00
MHDA- 2007/01/31 09:00
CRDT- 2006/06/06 09:00
PHST- 2006/06/06 09:00 [pubmed]
PHST- 2007/01/31 09:00 [medline]
PHST- 2006/06/06 09:00 [entrez]
AID - del174 [pii]
AID - 10.1093/humrep/del174 [doi]
PST - ppublish
SO  - Hum Reprod. 2006 Sep;21(9):2329-34. doi: 10.1093/humrep/del174. Epub 2006 Jun 3.