Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients
Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. To evaluate the implication of chromosome abnormali...
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| Veröffentlicht in: | Clinical genetics 2010-08, Vol.78 (2), p.181-185 |
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| creator | Lakhal, B Braham, R Berguigua, R Bouali, N Zaouali, M Chaieb, M Veitia, RA Saad, A Elghezal, H |
| description | Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.
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 aneuploïdy 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. |
| doi_str_mv | 10.1111/j.1399-0004.2009.01359.x |
| format | Article |
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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 aneuploïdy 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.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2009.01359.x</identifier><identifier>PMID: 20345472</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; amenorrhea ; Biological and medical sciences ; Chromosome Aberrations ; chromosome abnormalities ; Chromosome Deletion ; Chromosomes ; Chromosomes, Human, X - genetics ; Cytogenetics ; Female ; Female genital diseases ; FISH ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Gynecology. Andrology. Obstetrics ; Humans ; Hybridization ; In Situ Hybridization, Fluorescence - methods ; Interphase ; Karyotyping ; Medical genetics ; Medical sciences ; Molecular and cellular biology ; Monosomy - genetics ; Non tumoral diseases ; Patients ; premature ovarian failure ; Primary Ovarian Insufficiency - genetics ; Primary Ovarian Insufficiency - pathology ; X-chromosome mosaicism ; Young Adult</subject><ispartof>Clinical genetics, 2010-08, Vol.78 (2), p.181-185</ispartof><rights>2010 John Wiley & Sons A/S</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4959-94e3c5966097cd54ae8d8a7aaba21ecacbe44208b74eccefe70b97759a58476b3</citedby><cites>FETCH-LOGICAL-c4959-94e3c5966097cd54ae8d8a7aaba21ecacbe44208b74eccefe70b97759a58476b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2009.01359.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2009.01359.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22979241$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20345472$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lakhal, B</creatorcontrib><creatorcontrib>Braham, R</creatorcontrib><creatorcontrib>Berguigua, R</creatorcontrib><creatorcontrib>Bouali, N</creatorcontrib><creatorcontrib>Zaouali, M</creatorcontrib><creatorcontrib>Chaieb, M</creatorcontrib><creatorcontrib>Veitia, RA</creatorcontrib><creatorcontrib>Saad, A</creatorcontrib><creatorcontrib>Elghezal, H</creatorcontrib><title>Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.
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 aneuploïdy 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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>amenorrhea</subject><subject>Biological and medical sciences</subject><subject>Chromosome Aberrations</subject><subject>chromosome abnormalities</subject><subject>Chromosome Deletion</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Cytogenetics</subject><subject>Female</subject><subject>Female genital diseases</subject><subject>FISH</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics of eukaryotes. 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Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Hybridization</topic><topic>In Situ Hybridization, Fluorescence - methods</topic><topic>Interphase</topic><topic>Karyotyping</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular and cellular biology</topic><topic>Monosomy - genetics</topic><topic>Non tumoral diseases</topic><topic>Patients</topic><topic>premature ovarian failure</topic><topic>Primary Ovarian Insufficiency - genetics</topic><topic>Primary Ovarian Insufficiency - pathology</topic><topic>X-chromosome mosaicism</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lakhal, B</creatorcontrib><creatorcontrib>Braham, R</creatorcontrib><creatorcontrib>Berguigua, R</creatorcontrib><creatorcontrib>Bouali, N</creatorcontrib><creatorcontrib>Zaouali, M</creatorcontrib><creatorcontrib>Chaieb, M</creatorcontrib><creatorcontrib>Veitia, RA</creatorcontrib><creatorcontrib>Saad, A</creatorcontrib><creatorcontrib>Elghezal, H</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lakhal, B</au><au>Braham, R</au><au>Berguigua, R</au><au>Bouali, N</au><au>Zaouali, M</au><au>Chaieb, M</au><au>Veitia, RA</au><au>Saad, A</au><au>Elghezal, H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2010-08</date><risdate>2010</risdate><volume>78</volume><issue>2</issue><spage>181</spage><epage>185</epage><pages>181-185</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.
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 aneuploïdy 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.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>20345472</pmid><doi>10.1111/j.1399-0004.2009.01359.x</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult amenorrhea Biological and medical sciences Chromosome Aberrations chromosome abnormalities Chromosome Deletion Chromosomes Chromosomes, Human, X - genetics Cytogenetics Female Female genital diseases FISH Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Hybridization In Situ Hybridization, Fluorescence - methods Interphase Karyotyping Medical genetics Medical sciences Molecular and cellular biology Monosomy - genetics Non tumoral diseases Patients premature ovarian failure Primary Ovarian Insufficiency - genetics Primary Ovarian Insufficiency - pathology X-chromosome mosaicism Young Adult |
| title | Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients |
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