A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty
A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X...
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| Veröffentlicht in: | Clinical pediatrics 1996-02, Vol.35 (2), p.62-66 |
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| creator | Hon Fong Louie Mark Bayleran, Janet K. Seifer, David B. Meyers-Seifer, Cynthia H. |
| description | A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty. |
| doi_str_mv | 10.1177/000992289603500202 |
| format | Article |
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Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty.</description><identifier>ISSN: 0009-9228</identifier><identifier>EISSN: 1938-2707</identifier><identifier>DOI: 10.1177/000992289603500202</identifier><identifier>PMID: 8775477</identifier><identifier>CODEN: CPEDAM</identifier><language>eng</language><publisher>Thousand Oaks, CA: SAGE Publications</publisher><subject>Adolescent ; Biological and medical sciences ; DNA - analysis ; Female ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Medical sciences ; Polymerase Chain Reaction ; Puberal and climacteric disorders (male and female) ; Puberty, Delayed - diagnosis ; Puberty, Delayed - genetics ; Turner Syndrome - diagnosis ; Turner Syndrome - genetics ; Y Chromosome - genetics</subject><ispartof>Clinical pediatrics, 1996-02, Vol.35 (2), p.62-66</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c367t-c5918413ba8d373860bc97605c5c84996ffc7b11175c0a23199fb153963f79043</citedby><cites>FETCH-LOGICAL-c367t-c5918413ba8d373860bc97605c5c84996ffc7b11175c0a23199fb153963f79043</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/000992289603500202$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/000992289603500202$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,780,784,21819,27924,27925,43621,43622</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3009188$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8775477$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hon Fong Louie Mark</creatorcontrib><creatorcontrib>Bayleran, Janet K.</creatorcontrib><creatorcontrib>Seifer, David B.</creatorcontrib><creatorcontrib>Meyers-Seifer, Cynthia H.</creatorcontrib><title>A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty</title><title>Clinical pediatrics</title><addtitle>Clin Pediatr (Phila)</addtitle><description>A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Polymerase Chain Reaction</subject><subject>Puberal and climacteric disorders (male and female)</subject><subject>Puberty, Delayed - diagnosis</subject><subject>Puberty, Delayed - genetics</subject><subject>Turner Syndrome - diagnosis</subject><subject>Turner Syndrome - genetics</subject><subject>Y Chromosome - genetics</subject><issn>0009-9228</issn><issn>1938-2707</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD9PwzAQxS0EKqXwBZCQMiC20LOdxPZYtfyTimCAOXIcJwQldrGTId8eV426IDHd8H7v3d1D6BrDPcaMLQFACEK4yICmAATICZpjQXlMGLBTNN8D8Z44RxfefwNgCimdoRlnLE0Ym6PtKlrbrmiMLqP12NtaG903KpKmjF5tq9XQShetdjtnpfqKKuuiTSNrY31j6mijWzkG5_tQaNePl-iskq3XV9NcoM_Hh4_1c7x9e3pZr7axohnrY5UKzBNMC8lLyijPoFCCZZCqVPFEiKyqFCtweDFVIAnFQlQFTqnIaMUEJHSB7g654aqfQfs-7xqvdNtKo-3gc8YJZyRsWCByAJWz3jtd5TvXdNKNOYZ8X2H-t8JgupnSh6LT5dEydRb020mXXsm2ctKoxh8xGhIx5wFbHjAva51_28GZ0Ml_i38BTUCDmA</recordid><startdate>19960201</startdate><enddate>19960201</enddate><creator>Hon Fong Louie Mark</creator><creator>Bayleran, Janet K.</creator><creator>Seifer, David B.</creator><creator>Meyers-Seifer, Cynthia H.</creator><general>SAGE Publications</general><general>Westminster</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>19960201</creationdate><title>A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty</title><author>Hon Fong Louie Mark ; Bayleran, Janet K. ; Seifer, David B. ; Meyers-Seifer, Cynthia H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c367t-c5918413ba8d373860bc97605c5c84996ffc7b11175c0a23199fb153963f79043</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>DNA - analysis</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Polymerase Chain Reaction</topic><topic>Puberal and climacteric disorders (male and female)</topic><topic>Puberty, Delayed - diagnosis</topic><topic>Puberty, Delayed - genetics</topic><topic>Turner Syndrome - diagnosis</topic><topic>Turner Syndrome - genetics</topic><topic>Y Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hon Fong Louie Mark</creatorcontrib><creatorcontrib>Bayleran, Janet K.</creatorcontrib><creatorcontrib>Seifer, David B.</creatorcontrib><creatorcontrib>Meyers-Seifer, Cynthia H.</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>Clinical pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hon Fong Louie Mark</au><au>Bayleran, Janet K.</au><au>Seifer, David B.</au><au>Meyers-Seifer, Cynthia H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty</atitle><jtitle>Clinical pediatrics</jtitle><addtitle>Clin Pediatr (Phila)</addtitle><date>1996-02-01</date><risdate>1996</risdate><volume>35</volume><issue>2</issue><spage>62</spage><epage>66</epage><pages>62-66</pages><issn>0009-9228</issn><eissn>1938-2707</eissn><coden>CPEDAM</coden><abstract>A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty.</abstract><cop>Thousand Oaks, CA</cop><pub>SAGE Publications</pub><pmid>8775477</pmid><doi>10.1177/000992289603500202</doi><tpages>5</tpages></addata></record> |
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| ispartof | Clinical pediatrics, 1996-02, Vol.35 (2), p.62-66 |
| issn | 0009-9228 1938-2707 |
| language | eng |
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| source | Access via SAGE; MEDLINE |
| subjects | Adolescent Biological and medical sciences DNA - analysis Female Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Male Medical sciences Polymerase Chain Reaction Puberal and climacteric disorders (male and female) Puberty, Delayed - diagnosis Puberty, Delayed - genetics Turner Syndrome - diagnosis Turner Syndrome - genetics Y Chromosome - genetics |
| title | A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty |
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