Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)
Identifieur interne : 003A13 ( Istex/Corpus ); précédent : 003A12; suivant : 003A14Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)
Auteurs : F. G. Cassorla ; B S. Emanuel ; J. S. Parks ; C. H. Wu ; J. E. Wheeler ; A. TenoreSource :
- Clinical Genetics [ 0009-9163 ] ; 1981-05.
Abstract
A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaicism.
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DOI: 10.1111/j.1399-0004.1981.tb00717.x
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Tenore</name><affiliation><mods:affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">19</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="312">312</biblScope><biblScope unit="page" to="320">320</biblScope><biblScope unit="page-count">9</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="1981-05">1981-05</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. 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Wu</name><affiliations><json:string>Departments of Obstetrics and Gynecology University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</json:string></affiliations></json:item><json:item><name>J. E. Wheeler</name><affiliations><json:string>Departments of Pathology, University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</json:string></affiliations></json:item><json:item><name>A. 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Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. 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G.</forename><surname>Cassorla</surname></persName><affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A<address><country key="US"></country></address></affiliation><affiliation>*M.D. Developmental Endocrinology Branch Building 10, Room 10B09 National Institutes of Health Bethesda, Maryland 20205 U.S.A.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">B s.</forename><surname>Emanuel</surname></persName><affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">J. 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E.</givenNames><familyName>Wheeler</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a1"><personName><givenNames>A.</givenNames><familyName>Tenore</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="US"><unparsedAffiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="US"><unparsedAffiliation>Departments of Obstetrics and Gynecology University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="US"><unparsedAffiliation>Departments of Pathology, University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">Dysgerminoma</keyword><keyword xml:id="k2">gonadoblastoma</keyword><keyword xml:id="k3">mental retardation</keyword><keyword xml:id="k4">multiple congenital anomalies</keyword><keyword xml:id="k5">18p‐ syndrome</keyword><keyword xml:id="k6">tetralogy of Fallot</keyword><keyword xml:id="k7">XY gonadal dysgenesis</keyword><keyword xml:id="k8">Y‐autosome translocation</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaicism.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)</title></titleInfo><name type="personal"><namePart type="given">F. G.</namePart><namePart type="family">Cassorla</namePart><affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</affiliation><affiliation>*M.D. Developmental Endocrinology Branch Building 10, Room 10B09 National Institutes of Health Bethesda, Maryland 20205 U.S.A.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B s.</namePart><namePart type="family">Emanuel</namePart><affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. S.</namePart><namePart type="family">Parks</namePart><affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C. H.</namePart><namePart type="family">Wu</namePart><affiliation>Departments of Obstetrics and Gynecology University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. E.</namePart><namePart type="family">Wheeler</namePart><affiliation>Departments of Pathology, University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Tenore</namePart><affiliation>Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">1981-05</dateIssued><edition>Received 13 October 1980, revised 12 January, accepted for publication 19 January 1981</edition><copyrightDate encoding="w3cdtf">1981</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="references">13</extent></physicalDescription><abstract lang="en">A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaicism.</abstract><subject lang="en"><genre>keywords</genre><topic>Dysgerminoma</topic><topic>gonadoblastoma</topic><topic>mental retardation</topic><topic>multiple congenital anomalies</topic><topic>18p‐ syndrome</topic><topic>tetralogy of Fallot</topic><topic>XY gonadal dysgenesis</topic><topic>Y‐autosome translocation</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>1981</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>312</start><end>320</end><total>9</total></extent></part></relatedItem><identifier type="istex">7C0AEACCC5710B07B69902841124B2552D3E46BC</identifier><identifier type="DOI">10.1111/j.1399-0004.1981.tb00717.x</identifier><identifier type="ArticleID">CGE312</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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