Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia
Identifieur interne : 00CF57 ( Main/Merge ); précédent : 00CF56; suivant : 00CF58Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia
Auteurs : C. G. Palmer [États-Unis, Suisse] ; J. Blouin [États-Unis, Suisse] ; M. J. Bull [États-Unis, Suisse] ; P. Breitfeld [États-Unis, Suisse] ; G. H. Vance [États-Unis, Suisse] ; T. Van Meter [États-Unis, Suisse] ; D. D. Weaver [États-Unis, Suisse] ; N. A. Heerema [États-Unis, Suisse] ; S. G. Colbern [États-Unis, Suisse] ; J. R. Korenberg [États-Unis, Suisse] ; S. E. Antonarakis [États-Unis, Suisse] ; X. Chen [États-Unis, Suisse]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1995-07-17.
Abstract
We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,‐21/46, XX,‐21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML‐1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed. © 1995 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.1320570403
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Van Meter</name></author><author><name sortKey="Weaver, D D" sort="Weaver, D D" uniqKey="Weaver D" first="D. D." last="Weaver">D. D. Weaver</name></author><author><name sortKey="Heerema, N A" sort="Heerema, N A" uniqKey="Heerema N" first="N. A." last="Heerema">N. A. Heerema</name></author><author><name sortKey="Colbern, S G" sort="Colbern, S G" uniqKey="Colbern S" first="S. G." last="Colbern">S. G. Colbern</name></author><author><name sortKey="Korenberg, J R" sort="Korenberg, J R" uniqKey="Korenberg J" first="J. R." last="Korenberg">J. R. Korenberg</name></author><author><name sortKey="Antonarakis, S E" sort="Antonarakis, S E" uniqKey="Antonarakis S" first="S. E." last="Antonarakis">S. E. Antonarakis</name></author><author><name sortKey="Chen, X" sort="Chen, X" uniqKey="Chen X" first="X." last="Chen">X. 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G." last="Palmer">C. G. Palmer</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation><affiliation></affiliation></author><author><name sortKey="Blouin, J" sort="Blouin, J" uniqKey="Blouin J" first="J." last="Blouin">J. Blouin</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Bull, M J" sort="Bull, M J" uniqKey="Bull M" first="M. J." last="Bull">M. J. Bull</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Breitfeld, P" sort="Breitfeld, P" uniqKey="Breitfeld P" first="P." last="Breitfeld">P. Breitfeld</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Vance, G H" sort="Vance, G H" uniqKey="Vance G" first="G. H." last="Vance">G. H. Vance</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Van Meter, T" sort="Van Meter, T" uniqKey="Van Meter T" first="T." last="Van Meter">T. Van Meter</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Weaver, D D" sort="Weaver, D D" uniqKey="Weaver D" first="D. D." last="Weaver">D. D. Weaver</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Heerema, N A" sort="Heerema, N A" uniqKey="Heerema N" first="N. A." last="Heerema">N. A. Heerema</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Colbern, S G" sort="Colbern, S G" uniqKey="Colbern S" first="S. G." last="Colbern">S. G. Colbern</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Korenberg, J R" sort="Korenberg, J R" uniqKey="Korenberg J" first="J. R." last="Korenberg">J. R. Korenberg</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Antonarakis, S E" sort="Antonarakis, S E" uniqKey="Antonarakis S" first="S. E." last="Antonarakis">S. E. Antonarakis</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Chen, X" sort="Chen, X" uniqKey="Chen X" first="X." last="Chen">X. Chen</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Medical and Molecular Genetics and Pediatrics, Indiana University School of Medicine, Indianapolis Abmanson Department of Pediatrics, Division of Genetics, Cedars‐Sinai Medical Center, UCLA Los Angeles</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Division of Medical Genetics and Department of Genetics and Microbiology, University of Geneva Medical School, and Cantonal Hospital, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">57</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="527">527</biblScope><biblScope unit="page" to="536">536</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1995-07-17">1995-07-17</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,‐21/46, XX,‐21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML‐1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed. © 1995 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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