Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
Identifieur interne : 003B83 ( Pmc/Curation ); précédent : 003B82; suivant : 003B84Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
Auteurs : Z. Cetin [Turquie] ; I. Mendilcioglu [Turquie] ; S. Yakut [Turquie] ; S. Berker-Karauzum [Turquie] ; B. Karaman [Turquie] ; G. Luleci [Turquie]Source :
- Balkan Journal of Medical Genetics : BJMG [ 1311-0160 ] ; 2011.
Abstract
We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[
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DOI: 10.2478/v10034-011-0019-y
PubMed: 24052704
PubMed Central: 3776687
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)</title><author><name sortKey="Cetin, Z" sort="Cetin, Z" uniqKey="Cetin Z" first="Z" last="Cetin">Z. Cetin</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Mendilcioglu, I" sort="Mendilcioglu, I" uniqKey="Mendilcioglu I" first="I" last="Mendilcioglu">I. Mendilcioglu</name><affiliation wicri:level="1"><nlm:aff id="af2-bjmg-14-01-57">Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Yakut, S" sort="Yakut, S" uniqKey="Yakut S" first="S" last="Yakut">S. Yakut</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Berker Karauzum, S" sort="Berker Karauzum, S" uniqKey="Berker Karauzum S" first="S" last="Berker-Karauzum">S. Berker-Karauzum</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Karaman, B" sort="Karaman, B" uniqKey="Karaman B" first="B" last="Karaman">B. Karaman</name><affiliation wicri:level="1"><nlm:aff id="af3-bjmg-14-01-57">Prenatal Diagnosis Centre, Faculty of Medicine, Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Prenatal Diagnosis Centre, Faculty of Medicine, Istanbul University, Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Luleci, G" sort="Luleci, G" uniqKey="Luleci G" first="G" last="Luleci">G. Luleci</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24052704</idno><idno type="pmc">3776687</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776687</idno><idno type="RBID">PMC:3776687</idno><idno type="doi">10.2478/v10034-011-0019-y</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">003B84</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003B84</idno><idno type="wicri:Area/Pmc/Curation">003B83</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003B83</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)</title><author><name sortKey="Cetin, Z" sort="Cetin, Z" uniqKey="Cetin Z" first="Z" last="Cetin">Z. Cetin</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Mendilcioglu, I" sort="Mendilcioglu, I" uniqKey="Mendilcioglu I" first="I" last="Mendilcioglu">I. Mendilcioglu</name><affiliation wicri:level="1"><nlm:aff id="af2-bjmg-14-01-57">Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Yakut, S" sort="Yakut, S" uniqKey="Yakut S" first="S" last="Yakut">S. Yakut</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Berker Karauzum, S" sort="Berker Karauzum, S" uniqKey="Berker Karauzum S" first="S" last="Berker-Karauzum">S. Berker-Karauzum</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author><author><name sortKey="Karaman, B" sort="Karaman, B" uniqKey="Karaman B" first="B" last="Karaman">B. Karaman</name><affiliation wicri:level="1"><nlm:aff id="af3-bjmg-14-01-57">Prenatal Diagnosis Centre, Faculty of Medicine, Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Prenatal Diagnosis Centre, Faculty of Medicine, Istanbul University, Istanbul</wicri:regionArea></affiliation></author><author><name sortKey="Luleci, G" sort="Luleci, G" uniqKey="Luleci G" first="G" last="Luleci">G. Luleci</name><affiliation wicri:level="1"><nlm:aff id="af1-bjmg-14-01-57">Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea></affiliation></author></analytic><series><title level="j">Balkan Journal of Medical Genetics : BJMG</title><idno type="ISSN">1311-0160</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[<xref ref-type="bibr" rid="b9-bjmg-14-01-57">9</xref>]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[<xref ref-type="bibr" rid="b5-bjmg-14-01-57">5</xref>]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hjerrild, Be" uniqKey="Hjerrild B">BE Hjerrild</name></author><author><name sortKey="Mortensen, Kh" uniqKey="Mortensen K">KH Mortensen</name></author><author><name sortKey="Gravholt, Ch" uniqKey="Gravholt C">CH Gravholt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Doswell, Bh" uniqKey="Doswell B">BH Doswell</name></author><author><name sortKey="Visootsak, J" uniqKey="Visootsak J">J Visootsak</name></author><author><name sortKey="Brady, An" uniqKey="Brady A">AN Brady</name></author><author><name sortKey="Graham, Jm" uniqKey="Graham J">JM Graham</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kesler, Sr" uniqKey="Kesler S">SR 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Balkan J Med Genet</journal-id><journal-id journal-id-type="iso-abbrev">Balkan J. Med. Genet</journal-id><journal-id journal-id-type="publisher-id">BJMG</journal-id><journal-title-group><journal-title>Balkan Journal of Medical Genetics : BJMG</journal-title></journal-title-group><issn pub-type="ppub">1311-0160</issn><publisher><publisher-name>Macedonian Science of Sciences and Arts</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24052704</article-id><article-id pub-id-type="pmc">3776687</article-id><article-id pub-id-type="doi">10.2478/v10034-011-0019-y</article-id><article-id pub-id-type="publisher-id">bjmg-14-01-57</article-id><article-categories><subj-group subj-group-type="heading"><subject>Short Communication</subject></subj-group></article-categories><title-group><article-title>Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Cetin</surname><given-names>Z</given-names></name><xref ref-type="aff" rid="af1-bjmg-14-01-57">1</xref></contrib><contrib contrib-type="author"><name><surname>Mendilcioglu</surname><given-names>I</given-names></name><xref ref-type="aff" rid="af2-bjmg-14-01-57">2</xref></contrib><contrib contrib-type="author"><name><surname>Yakut</surname><given-names>S</given-names></name><xref ref-type="aff" rid="af1-bjmg-14-01-57">1</xref></contrib><contrib contrib-type="author"><name><surname>Berker-Karauzum</surname><given-names>S</given-names></name><xref ref-type="aff" rid="af1-bjmg-14-01-57">1</xref><xref ref-type="corresp" rid="c1-bjmg-14-01-57">*</xref></contrib><contrib contrib-type="author"><name><surname>Karaman</surname><given-names>B</given-names></name><xref ref-type="aff" rid="af3-bjmg-14-01-57">3</xref></contrib><contrib contrib-type="author"><name><surname>Luleci</surname><given-names>G</given-names></name><xref ref-type="aff" rid="af1-bjmg-14-01-57">1</xref></contrib></contrib-group><aff id="af1-bjmg-14-01-57"><label>1</label>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey</aff><aff id="af2-bjmg-14-01-57"><label>2</label>Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya, Turkey</aff><aff id="af3-bjmg-14-01-57"><label>3</label>Prenatal Diagnosis Centre, Faculty of Medicine, Istanbul University, Istanbul, Turkey</aff><author-notes><corresp id="c1-bjmg-14-01-57"><label>*</label><bold>Corresponding Author:</bold> Sibel Berker-Karauzum, Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90-242-227-44-82/227-44-95; E-mail: <email>sibelkarauzum@akdeniz.edu.tr</email></corresp></author-notes><pub-date pub-type="ppub"><month>6</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>25</day><month>7</month><year>2011</year></pub-date><volume>14</volume><issue>1</issue><fpage>57</fpage><lpage>60</lpage><permissions><copyright-statement>© Macedonian Academy of Sciences and Arts</copyright-statement><copyright-year>2011</copyright-year><license><license-p>This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc-nd/3.0/">http://creativecommons.org/licenses/by-nc-nd/3.0/</ext-link>), which means that the text may be used for non-commercial purposes, provided credit is given to the author.</license-p></license></permissions><abstract><p>We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[<xref ref-type="bibr" rid="b9-bjmg-14-01-57">9</xref>]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[<xref ref-type="bibr" rid="b5-bjmg-14-01-57">5</xref>]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).</p></abstract><kwd-group><kwd>Turner syndrome</kwd><kwd>Reciprocal translocation</kwd><kwd>Cytogenetics</kwd><kwd>Isochromosome Xq</kwd></kwd-group></article-meta></front><floats-group><fig id="f1-bjmg-14-01-57" position="float"><label>Figure 1</label><caption><p><bold>a)</bold> Karyotype of the proband showing balanced t(4;16)(p15.2;p13.1) translocation and isochromosome (X)(q10). <bold>b)</bold> Partial karyotype of the proband showing balanced translocation between chromosomes 4 and 16 and isochromosome (X)(q10). <bold>c and d)</bold> The FISH analysis results, using whole chromosome painting probes specific for chromosomes 4 and 16, indicating a balanced translocation between chromosomes 4 and 16. <bold>e)</bold> The FISH analysis results, using whole chromosome painting probe specific for chromosome X, indicating one normal chromosome X and one isochromosome Xq. <bold>f)</bold> The FISH analysis results using a satellite DNA probes specific for chromosome X.</p></caption><graphic xlink:href="bjmg-14-01-57f1"></graphic></fig></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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