Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection
A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnorm...
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| Veröffentlicht in: | Human reproduction (Oxford) 1997-05, Vol.12 (5), p.930-937 |
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| creator | Mau, U A Bäckert, I T Kaiser, P Kiesel, L |
| description | A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, autosomal reciprocal translocations in five cases, reciprocal translocation involving a sex chromosome in one case, inversions in three cases and a marker chromosome in one male. Chromosomal variants found in 11 women and 13 men were not included in the above percentages. Couples with a chromosomal aberration in one partner received a second counselling. The different aspects of genetic counselling in these couples are discussed. In conclusion, we recommend genetic counselling and chromosomal analysis of men and women prior to ICSI therapy. |
| doi_str_mv | 10.1093/humrep/12.5.930 |
| format | Article |
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Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, autosomal reciprocal translocations in five cases, reciprocal translocation involving a sex chromosome in one case, inversions in three cases and a marker chromosome in one male. Chromosomal variants found in 11 women and 13 men were not included in the above percentages. Couples with a chromosomal aberration in one partner received a second counselling. The different aspects of genetic counselling in these couples are discussed. In conclusion, we recommend genetic counselling and chromosomal analysis of men and women prior to ICSI therapy.</description><identifier>ISSN: 0268-1161</identifier><identifier>EISSN: 1460-2350</identifier><identifier>DOI: 10.1093/humrep/12.5.930</identifier><identifier>PMID: 9194642</identifier><identifier>CODEN: HUREEE</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adult ; Biological and medical sciences ; Birth control ; Chromosome Aberrations - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Female ; Fertilization in Vitro ; Genetic Counseling - statistics & numerical data ; Germany ; Gynecology. Andrology. Obstetrics ; Humans ; Infertility - ethnology ; Infertility - genetics ; Infertility - therapy ; Karyotyping ; Male ; Medical sciences ; Middle Aged ; Mosaicism - diagnosis ; Mosaicism - genetics ; Mutation - genetics ; Prospective Studies ; Sex Characteristics ; Sterility. Assisted procreation ; Translocation, Genetic - genetics ; Turkey - ethnology</subject><ispartof>Human reproduction (Oxford), 1997-05, Vol.12 (5), p.930-937</ispartof><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c397t-635391471cee50f29cb57d01990e9704666ea5723a7458d16c10170f87a6cf3b3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,1579,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2050085$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9194642$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mau, U A</creatorcontrib><creatorcontrib>Bäckert, I T</creatorcontrib><creatorcontrib>Kaiser, P</creatorcontrib><creatorcontrib>Kiesel, L</creatorcontrib><title>Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection</title><title>Human reproduction (Oxford)</title><addtitle>Hum Reprod</addtitle><addtitle>Hum Reprod</addtitle><description>A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, autosomal reciprocal translocations in five cases, reciprocal translocation involving a sex chromosome in one case, inversions in three cases and a marker chromosome in one male. Chromosomal variants found in 11 women and 13 men were not included in the above percentages. Couples with a chromosomal aberration in one partner received a second counselling. The different aspects of genetic counselling in these couples are discussed. In conclusion, we recommend genetic counselling and chromosomal analysis of men and women prior to ICSI therapy.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Chromosome Aberrations - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Female</subject><subject>Fertilization in Vitro</subject><subject>Genetic Counseling - statistics & numerical data</subject><subject>Germany</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Infertility - ethnology</subject><subject>Infertility - genetics</subject><subject>Infertility - therapy</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mosaicism - diagnosis</subject><subject>Mosaicism - genetics</subject><subject>Mutation - genetics</subject><subject>Prospective Studies</subject><subject>Sex Characteristics</subject><subject>Sterility. Assisted procreation</subject><subject>Translocation, Genetic - genetics</subject><subject>Turkey - ethnology</subject><issn>0268-1161</issn><issn>1460-2350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDFP5DAQhS3ECRaO-qqTUqArkLI7E8d2XKIVB0gr0dzVlteZQFBiBzsp-PcY7YqWaqx535vxPMZ-IawRNN-8LGOkaYPVWqw1hxO2wlpCWXEBp2wFlWxKRInn7CKlV4D8bOQZO9Ooa1lXK-a3LzGMIYXRDkXX-7b3z6nofYECCheWaaBUROooRmqLLsTimTzNvfsUfaJhyIZiin1W5pCNc7TufQ7TYNOYqTRRHHP7ldzcB_-T_ejskOjqWC_Z_793_7YP5e7p_nF7uysd12ouJRdcY63QEQnoKu32QrWAWgNpBbWUkqxQFbeqFk2L0iGggq5RVrqO7_kl-3OYO8XwtlCazdgnl39rPYUlGaVBcYUyg5sD6GJIKR9q8i2jje8GwXwmbA4JG6yMMDnh7Ph9HL3sR2q_-GOkWb8-6jY5O3TRetenL6wCAdCIjN0csJzxtzs_AAK9k_s</recordid><startdate>19970501</startdate><enddate>19970501</enddate><creator>Mau, U A</creator><creator>Bäckert, I T</creator><creator>Kaiser, P</creator><creator>Kiesel, L</creator><general>Oxford University Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19970501</creationdate><title>Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection</title><author>Mau, U A ; Bäckert, I T ; Kaiser, P ; Kiesel, L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c397t-635391471cee50f29cb57d01990e9704666ea5723a7458d16c10170f87a6cf3b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Birth control</topic><topic>Chromosome Aberrations - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Female</topic><topic>Fertilization in Vitro</topic><topic>Genetic Counseling - statistics & numerical data</topic><topic>Germany</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Infertility - ethnology</topic><topic>Infertility - genetics</topic><topic>Infertility - therapy</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mosaicism - diagnosis</topic><topic>Mosaicism - genetics</topic><topic>Mutation - genetics</topic><topic>Prospective Studies</topic><topic>Sex Characteristics</topic><topic>Sterility. Assisted procreation</topic><topic>Translocation, Genetic - genetics</topic><topic>Turkey - ethnology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mau, U A</creatorcontrib><creatorcontrib>Bäckert, I T</creatorcontrib><creatorcontrib>Kaiser, P</creatorcontrib><creatorcontrib>Kiesel, L</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Human reproduction (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mau, U A</au><au>Bäckert, I T</au><au>Kaiser, P</au><au>Kiesel, L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection</atitle><jtitle>Human reproduction (Oxford)</jtitle><stitle>Hum Reprod</stitle><addtitle>Hum Reprod</addtitle><date>1997-05-01</date><risdate>1997</risdate><volume>12</volume><issue>5</issue><spage>930</spage><epage>937</epage><pages>930-937</pages><issn>0268-1161</issn><eissn>1460-2350</eissn><coden>HUREEE</coden><abstract>A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, autosomal reciprocal translocations in five cases, reciprocal translocation involving a sex chromosome in one case, inversions in three cases and a marker chromosome in one male. Chromosomal variants found in 11 women and 13 men were not included in the above percentages. Couples with a chromosomal aberration in one partner received a second counselling. The different aspects of genetic counselling in these couples are discussed. In conclusion, we recommend genetic counselling and chromosomal analysis of men and women prior to ICSI therapy.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>9194642</pmid><doi>10.1093/humrep/12.5.930</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0268-1161 |
| ispartof | Human reproduction (Oxford), 1997-05, Vol.12 (5), p.930-937 |
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| language | eng |
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| source | MEDLINE; EZB Electronic Journals Library; Oxford Journals |
| subjects | Adult Biological and medical sciences Birth control Chromosome Aberrations - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Female Fertilization in Vitro Genetic Counseling - statistics & numerical data Germany Gynecology. Andrology. Obstetrics Humans Infertility - ethnology Infertility - genetics Infertility - therapy Karyotyping Male Medical sciences Middle Aged Mosaicism - diagnosis Mosaicism - genetics Mutation - genetics Prospective Studies Sex Characteristics Sterility. Assisted procreation Translocation, Genetic - genetics Turkey - ethnology |
| title | Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection |
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