PMID- 20345472
OWN - NLM
STAT- MEDLINE
DCOM- 20101207
LR  - 20100728
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
VI  - 78
IP  - 2
DP  - 2010 Aug
TI  - Cytogenetic analyses of premature ovarian failure using karyotyping and 
      interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.
PG  - 181-5
LID - 10.1111/j.1399-0004.2009.01359.x [doi]
AB  - To evaluate the implication of chromosome abnormalities in the etiology of 
      premature ovarian failure (POF), 1000 patients with POF recruited at the 
      Department of Cytogenetics of Farhat Hached Hospital (Sousse, Tunisia) between 
      January 1996 and December 2008. Chromosome analyses were performed by using 
      karyotyping and interphase fluorescent in situ hybridisation (FISH) using a 
      centromeric probe of the chromosome X to look for low-level mosaicism of 
      X-chromosome monosomy. Hundred and eight chromosomal abnormalities (10.8%) were 
      found using karyotype analysis. Anomalies were detected in 61 cases out of 432 
      primary amenorrhea patients (14.12%) and 47 cases out of 568 secondary amenorrhea 
      patients (8.27%). In 23 POF patients among 200 (11.5%) with 46,XX normal 
      karyotype and explored using interphase FISH analysis, the percentage of cells 
      with X-chromosome monosomy was significantly higher as compared with controls in 
      the same age. The cytogenetic study of POF patients showed a high prevalence of 
      chromosome anomalies either in primary or in secondary amenorrhoea. Mosaic 
      X-chromosome s aneuploidy was the most frequent abnormality and some patients 
      with POF may be attributable to low-level 45,X/46,XX mosaicism detectable using 
      FISH analysis.
FAU - Lakhal, B
AU  - Lakhal B
AD  - Cytogenetics and Reproductive Biology Department, Farhat Hached University 
      Teaching Hospital, Sousse, Tunisia. besma_lakhal@yahoo.fr
FAU - Braham, R
AU  - Braham R
FAU - Berguigua, R
AU  - Berguigua R
FAU - Bouali, N
AU  - Bouali N
FAU - Zaouali, M
AU  - Zaouali M
FAU - Chaieb, M
AU  - Chaieb M
FAU - Veitia, R A
AU  - Veitia RA
FAU - Saad, A
AU  - Saad A
FAU - Elghezal, H
AU  - Elghezal H
LA  - eng
PT  - Journal Article
DEP - 20091202
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosomes, Human, X/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - *Interphase
MH  - Karyotyping
MH  - Monosomy/genetics
MH  - Primary Ovarian Insufficiency/*genetics/*pathology
MH  - Young Adult
EDAT- 2010/03/30 06:00
MHDA- 2010/12/14 06:00
CRDT- 2010/03/30 06:00
PHST- 2010/03/30 06:00 [entrez]
PHST- 2010/03/30 06:00 [pubmed]
PHST- 2010/12/14 06:00 [medline]
AID - CGE1359 [pii]
AID - 10.1111/j.1399-0004.2009.01359.x [doi]
PST - ppublish
SO  - Clin Genet. 2010 Aug;78(2):181-5. doi: 10.1111/j.1399-0004.2009.01359.x. Epub 
      2009 Dec 2.