45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals
45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich‐Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormal...
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| Veröffentlicht in: | American journal of medical genetics 1998-08, Vol.78 (5), p.424-428 |
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| creator | Teraoka, Michio Narahara, Koji Yokoyama, Yuji Tsuji, Kazushiro Kikkawa, Kiyoshi Ito, Satoko Koyama, Kiyoko Seino, Yoshiki |
| description | 45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich‐Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormality of the SRY gene (SRY). We conducted cytogenetic and molecular studies on four patients with such mosaicism, two of whom had a complete male phenotype and two who had UTS. Chromosome analyses showed that the frequency of cells carrying an idic(Yq) chromosome in peripheral blood lymphocytes and skin fibroblasts was not related to the given sex phenotype. The SRY, PABY, and ZFY genes were present in all four patients. A fluorescence in situ hybridization (FISH) study showed that both a patient with a complete male phenotype and another with UTS had duplicate copies of SRY in their idic(Yq) chromosomes, whereas a patient with UTS had a single copy of the gene. These findings suggested that the coexisting 45,X cell line is more influential on the determination of the sex phenotype in individuals with 45,X/46,X,idic(Yq) mosaicism. Am. J. Med. Genet. 78:424–428, 1998. © 1998 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(19980806)78:5<424::AID-AJMG6>3.0.CO;2-L |
| format | Article |
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It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormality of the SRY gene (SRY). We conducted cytogenetic and molecular studies on four patients with such mosaicism, two of whom had a complete male phenotype and two who had UTS. Chromosome analyses showed that the frequency of cells carrying an idic(Yq) chromosome in peripheral blood lymphocytes and skin fibroblasts was not related to the given sex phenotype. The SRY, PABY, and ZFY genes were present in all four patients. A fluorescence in situ hybridization (FISH) study showed that both a patient with a complete male phenotype and another with UTS had duplicate copies of SRY in their idic(Yq) chromosomes, whereas a patient with UTS had a single copy of the gene. These findings suggested that the coexisting 45,X cell line is more influential on the determination of the sex phenotype in individuals with 45,X/46,X,idic(Yq) mosaicism. Am. J. Med. Genet. 78:424–428, 1998. © 1998 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19980806)78:5<424::AID-AJMG6>3.0.CO;2-L</identifier><identifier>PMID: 9714008</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Cells, Cultured ; Chromosome aberrations ; Deleted in Azoospermia 1 Protein ; DNA-Binding Proteins - genetics ; Female ; FISH ; Gene Dosage ; Humans ; idic(Yq) ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Kruppel-Like Transcription Factors ; Male ; Medical genetics ; Medical sciences ; mosaicism ; Mosaicism - genetics ; Nuclear Proteins ; PABY ; Phenotype ; Polymerase Chain Reaction ; RNA-Binding Proteins - genetics ; Sex Chromosome Aberrations - genetics ; Sex Determination Processes ; sex differentiation ; Sex-Determining Region Y Protein ; Sister Chromatid Exchange ; SRY ; Transcription Factors ; X Chromosome - genetics ; ZFY</subject><ispartof>American journal of medical genetics, 1998-08, Vol.78 (5), p.424-428</ispartof><rights>Copyright © 1998 Wiley‐Liss, Inc.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3666-e7457b7d5e9dee2a5519c9aff9be30c455a8bd5d4e083dc1005c8c143d0758da3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2354878$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9714008$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Teraoka, Michio</creatorcontrib><creatorcontrib>Narahara, Koji</creatorcontrib><creatorcontrib>Yokoyama, Yuji</creatorcontrib><creatorcontrib>Tsuji, Kazushiro</creatorcontrib><creatorcontrib>Kikkawa, Kiyoshi</creatorcontrib><creatorcontrib>Ito, Satoko</creatorcontrib><creatorcontrib>Koyama, Kiyoko</creatorcontrib><creatorcontrib>Seino, Yoshiki</creatorcontrib><title>45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich‐Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormality of the SRY gene (SRY). We conducted cytogenetic and molecular studies on four patients with such mosaicism, two of whom had a complete male phenotype and two who had UTS. Chromosome analyses showed that the frequency of cells carrying an idic(Yq) chromosome in peripheral blood lymphocytes and skin fibroblasts was not related to the given sex phenotype. The SRY, PABY, and ZFY genes were present in all four patients. A fluorescence in situ hybridization (FISH) study showed that both a patient with a complete male phenotype and another with UTS had duplicate copies of SRY in their idic(Yq) chromosomes, whereas a patient with UTS had a single copy of the gene. These findings suggested that the coexisting 45,X cell line is more influential on the determination of the sex phenotype in individuals with 45,X/46,X,idic(Yq) mosaicism. Am. J. Med. Genet. 78:424–428, 1998. © 1998 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Chromosome aberrations</subject><subject>Deleted in Azoospermia 1 Protein</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Female</subject><subject>FISH</subject><subject>Gene Dosage</subject><subject>Humans</subject><subject>idic(Yq)</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant, Newborn</subject><subject>Karyotyping</subject><subject>Kruppel-Like Transcription Factors</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>mosaicism</subject><subject>Mosaicism - genetics</subject><subject>Nuclear Proteins</subject><subject>PABY</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>RNA-Binding Proteins - genetics</subject><subject>Sex Chromosome Aberrations - genetics</subject><subject>Sex Determination Processes</subject><subject>sex differentiation</subject><subject>Sex-Determining Region Y Protein</subject><subject>Sister Chromatid Exchange</subject><subject>SRY</subject><subject>Transcription Factors</subject><subject>X Chromosome - genetics</subject><subject>ZFY</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF2LEzEUhgdR1rr6E4S5EGlhpptMkkmmilJGt1brFrTSeuMhTTJLdD52Jx21_97Uqb1R8OrAOc95eXmC4CVGY4xQcjH8OM_nI4yyNBZpIoY4ywQSKB1xMWHPaUInk-n8VTx9-36WviBjNM6Xz5J4cScYnH7uBgOEqYh5kmX3gwfOfUUI-0VyFpxlHFOExCD4Qlm0uaBptImstmr4-XYUVo2TVllXTcK8tLVVsoxCtd8116Y2O6uiUNbaU6VRXSnb0O06bY0LbR0WTdf6qe13qztZuofBvcIP8-g4z4NPl69X-Zt4sZzN8-kiViRN09hwyviWa2YybUwiGcOZymRRZFtDkKKMSbHVTFODBNHKG2JKKEyJRpwJLcl58LTPvWmb2864HVTWKVOWsjZN54ATQTEn1IPrHlRt41xrCrhpbSXbPWAEB_MAB_NwsAgHi_DHPHABDLx5AG8efpsHAgjyJSSw8MmPjxW6bWX0Kfeo2t-fHO_SeaNFK2vv-IQlhFHBD9imx37Y0uz_avffcv_q1i98dNxHW7czP0_Rsv0GKSecwfpqBu_Wq8vV1YzAB_IL_UG6WQ</recordid><startdate>19980806</startdate><enddate>19980806</enddate><creator>Teraoka, Michio</creator><creator>Narahara, Koji</creator><creator>Yokoyama, Yuji</creator><creator>Tsuji, Kazushiro</creator><creator>Kikkawa, Kiyoshi</creator><creator>Ito, Satoko</creator><creator>Koyama, Kiyoko</creator><creator>Seino, Yoshiki</creator><general>John Wiley & Sons, Inc</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>19980806</creationdate><title>45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals</title><author>Teraoka, Michio ; Narahara, Koji ; Yokoyama, Yuji ; Tsuji, Kazushiro ; Kikkawa, Kiyoshi ; Ito, Satoko ; Koyama, Kiyoko ; Seino, Yoshiki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3666-e7457b7d5e9dee2a5519c9aff9be30c455a8bd5d4e083dc1005c8c143d0758da3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Chromosome aberrations</topic><topic>Deleted in Azoospermia 1 Protein</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Female</topic><topic>FISH</topic><topic>Gene Dosage</topic><topic>Humans</topic><topic>idic(Yq)</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant, Newborn</topic><topic>Karyotyping</topic><topic>Kruppel-Like Transcription Factors</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>mosaicism</topic><topic>Mosaicism - genetics</topic><topic>Nuclear Proteins</topic><topic>PABY</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>RNA-Binding Proteins - genetics</topic><topic>Sex Chromosome Aberrations - genetics</topic><topic>Sex Determination Processes</topic><topic>sex differentiation</topic><topic>Sex-Determining Region Y Protein</topic><topic>Sister Chromatid Exchange</topic><topic>SRY</topic><topic>Transcription Factors</topic><topic>X Chromosome - genetics</topic><topic>ZFY</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Teraoka, Michio</creatorcontrib><creatorcontrib>Narahara, Koji</creatorcontrib><creatorcontrib>Yokoyama, Yuji</creatorcontrib><creatorcontrib>Tsuji, Kazushiro</creatorcontrib><creatorcontrib>Kikkawa, Kiyoshi</creatorcontrib><creatorcontrib>Ito, Satoko</creatorcontrib><creatorcontrib>Koyama, Kiyoko</creatorcontrib><creatorcontrib>Seino, Yoshiki</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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Teraoka, Michio</au><au>Narahara, Koji</au><au>Yokoyama, Yuji</au><au>Tsuji, Kazushiro</au><au>Kikkawa, Kiyoshi</au><au>Ito, Satoko</au><au>Koyama, Kiyoko</au><au>Seino, Yoshiki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. 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A fluorescence in situ hybridization (FISH) study showed that both a patient with a complete male phenotype and another with UTS had duplicate copies of SRY in their idic(Yq) chromosomes, whereas a patient with UTS had a single copy of the gene. These findings suggested that the coexisting 45,X cell line is more influential on the determination of the sex phenotype in individuals with 45,X/46,X,idic(Yq) mosaicism. Am. J. Med. Genet. 78:424–428, 1998. © 1998 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>9714008</pmid><doi>10.1002/(SICI)1096-8628(19980806)78:5<424::AID-AJMG6>3.0.CO;2-L</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult Biological and medical sciences Cells, Cultured Chromosome aberrations Deleted in Azoospermia 1 Protein DNA-Binding Proteins - genetics Female FISH Gene Dosage Humans idic(Yq) In Situ Hybridization, Fluorescence Infant, Newborn Karyotyping Kruppel-Like Transcription Factors Male Medical genetics Medical sciences mosaicism Mosaicism - genetics Nuclear Proteins PABY Phenotype Polymerase Chain Reaction RNA-Binding Proteins - genetics Sex Chromosome Aberrations - genetics Sex Determination Processes sex differentiation Sex-Determining Region Y Protein Sister Chromatid Exchange SRY Transcription Factors X Chromosome - genetics ZFY |
| title | 45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals |
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