Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
Identifieur interne : 005183 ( Main/Exploration ); précédent : 005182; suivant : 005184Turner 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 [ 1311-0160 ] ; 2011-01-01.
English descriptors
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)[9]/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)[5]. 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).
Url:
- https://api.istex.fr/document/EAAD880358750E04B1A16568A83E4DB477B17854/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776687
DOI: 10.2478/v10034-011-0019-y
Affiliations:
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Le document en format XML
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Cetin</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea><wicri:noRegion>Antalya</wicri:noRegion></affiliation></author><author><name sortKey="Mendilcioglu, I" sort="Mendilcioglu, I" uniqKey="Mendilcioglu I" first="I" last="Mendilcioglu">I. Mendilcioglu</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea><wicri:noRegion>Antalya</wicri:noRegion></affiliation></author><author><name sortKey="Yakut, S" sort="Yakut, S" uniqKey="Yakut S" first="S" last="Yakut">S. Yakut</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea><wicri:noRegion>Antalya</wicri:noRegion></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"><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya</wicri:regionArea><wicri:noRegion>Antalya</wicri:noRegion></affiliation></author><author><name sortKey="Karaman, B" sort="Karaman, B" uniqKey="Karaman B" first="B" last="Karaman">B. 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Her karyotype was 45, X, t(4;16) (p15.2;p13.1)[9]/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)[5]. 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).</div></front></TEI><affiliations><list><country><li>Turquie</li></country></list><tree><country name="Turquie"><noRegion><name sortKey="Cetin, Z" sort="Cetin, Z" uniqKey="Cetin Z" first="Z" last="Cetin">Z. Cetin</name></noRegion><name sortKey="Berker Karauzum, S" sort="Berker Karauzum, S" uniqKey="Berker Karauzum S" first="S" last="Berker-Karauzum">S. Berker-Karauzum</name><name sortKey="Karaman, B" sort="Karaman, B" uniqKey="Karaman B" first="B" last="Karaman">B. Karaman</name><name sortKey="Luleci, G" sort="Luleci, G" uniqKey="Luleci G" first="G" last="Luleci">G. Luleci</name><name sortKey="Mendilcioglu, I" sort="Mendilcioglu, I" uniqKey="Mendilcioglu I" first="I" last="Mendilcioglu">I. Mendilcioglu</name><name sortKey="Yakut, S" sort="Yakut, S" uniqKey="Yakut S" first="S" last="Yakut">S. Yakut</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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