Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report
We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single ma...
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| Veröffentlicht in: | American journal of medical genetics 1999-05, Vol.84 (1), p.12-14 |
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| container_title | American journal of medical genetics |
| container_volume | 84 |
| creator | Yaron, Yuval Feldman, Baruch Kramer, Ralph L. Kasperski, Stefanie B. Vo, Trieu Feldman, Gerald L. Johnson, Mark P. Evans, Mark I. Ebrahim, Salah A.D. |
| description | We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism. Am. J. Med. Genet. 84:12–14, 1999. © 1999 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U |
| format | Article |
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Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism. Am. J. Med. Genet. 84:12–14, 1999. © 1999 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U</identifier><identifier>PMID: 10213039</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>46,XX/46,XY mosaicism ; Alleles ; Apolipoproteins B - genetics ; Biological and medical sciences ; Chimera - genetics ; Fetus - metabolism ; Gynecology. Andrology. Obstetrics ; Humans ; Male ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical sciences ; Meiosis - genetics ; Minisatellite Repeats - genetics ; Mitosis - genetics ; Mosaicism - genetics ; Phenotype ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Sex Characteristics ; Sex Chromosomes - genetics ; XX/46 ; XY mosaicism</subject><ispartof>American journal of medical genetics, 1999-05, Vol.84 (1), p.12-14</ispartof><rights>Copyright © 1999 Wiley‐Liss, Inc.</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4333-bd10c9403a9182da2f7788f0c3fe47903031884a2a0aac673562bd7bb6e678683</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1738353$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10213039$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yaron, Yuval</creatorcontrib><creatorcontrib>Feldman, Baruch</creatorcontrib><creatorcontrib>Kramer, Ralph L.</creatorcontrib><creatorcontrib>Kasperski, Stefanie B.</creatorcontrib><creatorcontrib>Vo, Trieu</creatorcontrib><creatorcontrib>Feldman, Gerald L.</creatorcontrib><creatorcontrib>Johnson, Mark P.</creatorcontrib><creatorcontrib>Evans, Mark I.</creatorcontrib><creatorcontrib>Ebrahim, Salah A.D.</creatorcontrib><title>Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism. Am. J. Med. Genet. 84:12–14, 1999. © 1999 Wiley‐Liss, Inc.</description><subject>46,XX/46,XY mosaicism</subject><subject>Alleles</subject><subject>Apolipoproteins B - genetics</subject><subject>Biological and medical sciences</subject><subject>Chimera - genetics</subject><subject>Fetus - metabolism</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Male</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical sciences</subject><subject>Meiosis - genetics</subject><subject>Minisatellite Repeats - genetics</subject><subject>Mitosis - genetics</subject><subject>Mosaicism - genetics</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Prenatal Diagnosis</subject><subject>Sex Characteristics</subject><subject>Sex Chromosomes - genetics</subject><subject>XX/46</subject><subject>XY mosaicism</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkOFr1DAYh4Mo7pz-C9IPIhvY25uk1yRVBmfV88bcKfO2-eklTdNRba9ncofuvze15xQU_JJAePLw4yHkmMKYArCjg_N5Pj-koNJYpkweUKUUTEAcyiSjLyjLsun8VTw9eTfjx3wM43zxnMXLO2R0--UuGQFNZCyYUnvkgfefAWh4YPfJHgVGOXA1Itl7Z1d6o5uorPX1qvO1j7oqStJnV5-O-vMqajuva1P7NoumkdHeRs6uO7d5SO5VuvH20e7eJ8s3rz_mb-PTxWyeT09jk3DO46KkYFQCXCsqWalZJYSUFRhe2UQoCDuolIlmGrQ2qeCTlBWlKIrUpkKmku-Tp4N37bqvW-s32Nbe2KbRK9ttPaZKgKSiBy8G0LjOe2crXLu61e4GKWBfFbGvin0i7BPhr6ooE6RIAxCq4s-qyBEwXyDDZRA_3i3YFq0t_9AOGQPwZAdob3RTOb0KwX5zgks-4QG7HLBvdWNv_lr3v3H_2jY8BHM8mGu_sd9vzdp9wVBUTPDybIYf2EnycnZxhuf8Byz-qxo</recordid><startdate>19990507</startdate><enddate>19990507</enddate><creator>Yaron, Yuval</creator><creator>Feldman, Baruch</creator><creator>Kramer, Ralph L.</creator><creator>Kasperski, Stefanie B.</creator><creator>Vo, Trieu</creator><creator>Feldman, Gerald L.</creator><creator>Johnson, Mark P.</creator><creator>Evans, Mark I.</creator><creator>Ebrahim, Salah A.D.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><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>19990507</creationdate><title>Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report</title><author>Yaron, Yuval ; Feldman, Baruch ; Kramer, Ralph L. ; Kasperski, Stefanie B. ; Vo, Trieu ; Feldman, Gerald L. ; Johnson, Mark P. ; Evans, Mark I. ; Ebrahim, Salah A.D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4333-bd10c9403a9182da2f7788f0c3fe47903031884a2a0aac673562bd7bb6e678683</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>46,XX/46,XY mosaicism</topic><topic>Alleles</topic><topic>Apolipoproteins B - genetics</topic><topic>Biological and medical sciences</topic><topic>Chimera - genetics</topic><topic>Fetus - metabolism</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Male</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. 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J. Med. Genet</addtitle><date>1999-05-07</date><risdate>1999</risdate><volume>84</volume><issue>1</issue><spage>12</spage><epage>14</epage><pages>12-14</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism. Am. J. Med. Genet. 84:12–14, 1999. © 1999 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>10213039</pmid><doi>10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U</doi><tpages>3</tpages></addata></record> |
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| subjects | 46,XX/46,XY mosaicism Alleles Apolipoproteins B - genetics Biological and medical sciences Chimera - genetics Fetus - metabolism Gynecology. Andrology. Obstetrics Humans Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Meiosis - genetics Minisatellite Repeats - genetics Mitosis - genetics Mosaicism - genetics Phenotype Polymerase Chain Reaction Prenatal Diagnosis Sex Characteristics Sex Chromosomes - genetics XX/46 XY mosaicism |
| title | Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report |
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