Search Results

There are 24579 results for: content related to: Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization

  1. 21q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: Report from an International Workshop

    Genes, Chromosomes and Cancer

    Volume 33, Issue 4, April 2002, Pages: 379–394, Marilyn L. Slovak, Victoria Bedell, Leslie Popplewell, Daniel A. Arber, Claudia Schoch and Rosalyn Slater

    Version of Record online : 31 DEC 2001, DOI: 10.1002/gcc.10042

  2. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1697–1705, Daniela Melis, Rita Genesio, Gerarda Cappuccio, Virginia MariaGinocchio, Roberto Della Casa, Giuseppe Menna, Salvatore Buffardi, Vincenzo Poggi, Anna Leszle, Floriana Imperati, Massimo Carella, Antonella Izzo, Ennio Del Giudice, Lucio Nitsch and Generoso Andria

    Version of Record online : 10 JUN 2011, DOI: 10.1002/ajmg.a.33976

  3. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 3, 15 December 2004, Pages: 265–372, Daniela Ehling, Ingo Kennerknecht, Annelore Junge, Bettina Prager, Rita Exeler, Beate Behre, Juergen Horst, Thomas Schmitt-John, Oliver Bartsch and Jutta Wirth

    Version of Record online : 8 NOV 2004, DOI: 10.1002/ajmg.a.30361

  4. You have full text access to this OnlineOpen article
    Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

    Clinical Case Reports

    Volume 3, Issue 9, September 2015, Pages: 757–761, Valentine Marquet, Dominique Bourgeois, Philippe De Mas, Laurence Bouneau, Adeline Vigouroux-Castera, Romain Molignier and Patrick Calvas

    Version of Record online : 20 AUG 2015, DOI: 10.1002/ccr3.313

  5. A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 124–127, Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa and Koh-ichiro Yoshiura

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.31974

  6. Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: Implication for ring chromosome formation

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 332–337, Koji Muroya, Keiichi Yamamoto, Yoshimitsu Fukushima and Tsutomu Ogata

    Version of Record online : 24 MAY 2002, DOI: 10.1002/ajmg.10466

  7. You have free access to this content
    Hypoplastic left heart syndrome and 21q22.3 deletion

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 579–586, Laura Ciocca, M. Cristina Digilio, Antonietta Lombardo, Gemma D'Elia, Anwar Baban, Rossella Capolino, Stefano Petrocchi, Serena Russo, Pietro Sirleto, M. Cristina Roberti, Bruno Marino, Adriano Angioni and Bruno Dallapiccola

    Version of Record online : 7 FEB 2015, DOI: 10.1002/ajmg.a.36914

  8. 1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1535–1541, Kosuke Izumi, Susan S. Brooks, Holly A. Feret and Elaine H. Zackai

    Version of Record online : 21 MAY 2012, DOI: 10.1002/ajmg.a.35368

  9. 11q23 balanced chromosome aberrations in treatment-related myelodysplastic syndromes and acute leukemia: Report from an International Workshop

    Genes, Chromosomes and Cancer

    Volume 33, Issue 4, April 2002, Pages: 362–378, Clara D. Bloomfield, Kellie J. Archer, Krzysztof Mrózek, Debra M. Lillington, Yasuhiko Kaneko, David R. Head, Paola Dal Cin and Susana C. Raimondi

    Version of Record online : 31 DEC 2001, DOI: 10.1002/gcc.10046

  10. Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation

    American Journal of Medical Genetics

    Volume 107, Issue 4, 1 February 2002, Pages: 330–333, Milen Velinov, Hong Gu, Keame Yeboa, Dorothy Warburton, Taknida Tubo, Sarita Dhuper, Stuart Lanter, Doreen Delprino, Gabriel Kupchik and Edmund C. Jenkins

    Version of Record online : 13 DEC 2001, DOI: 10.1002/ajmg.10140

  11. Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 3, 15 March 2003, Pages: 236–244, Denise Horn, Heidemarie Neitzel, Holger Tönnies, Vera Kalscheuer, Jürgen Kunze, Georg Klaus Hinkel and Oliver Bartsch

    Version of Record online : 25 NOV 2002, DOI: 10.1002/ajmg.a.10017

  12. Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome

    Clinical Genetics

    Volume 59, Issue 6, June 2001, Pages: 438–443, CJ Forster-Gibson, J Davies, JJ MacKenzie and K Harrison

    Version of Record online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590609.x

  13. Detailed molecular and clinical characterization of three patients with 21q deletions

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 145–154, A Lindstrand, H Malmgren, S Sahlén, J Schoumans, A Nordgren, U Ergander, E Holm, BM Anderlid and E Blennow

    Version of Record online : 23 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01289.x

  14. Transient myeloproliferative disorder with partial trisomy 21

    Pediatric Blood & Cancer

    Volume 62, Issue 11, November 2015, Pages: 2021–2024, Takahide Takahashi, Akira Inoue, Junko Yoshimoto, Kiichiro Kanamitsu, Tomohiko Taki, Masahide Imada, Mutsuko Yamada, Shinsuke Ninomiya, Tsutomu Toki, Kiminori Terui, Etsuro Ito and Akira Shimada

    Version of Record online : 1 JUL 2015, DOI: 10.1002/pbc.25624

  15. A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden–walker syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2281–2290, María Carmen Carrascosa-Romero, Javier Suela, José Manuel Pardal-Fernández, Eva Bermejo-Sánchez, Alberto Vidal-Company, Alexandra MacDonald, Roque Tébar-Gil, María Luisa Martínez-Fernández and María Luisa Martínez-Frías

    Version of Record online : 25 JUL 2013, DOI: 10.1002/ajmg.a.35862

  16. Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 52, Issue 2, February 2013, Pages: 202–213, Halima Al-Shehhi, Zoe J. Konn, Claire J. Schwab, Amy Erhorn, Kerry E. Barber, Sarah L. Wright, Alem S. Gabriel, Christine J. Harrison and Anthony V. Moorman

    Version of Record online : 18 OCT 2012, DOI: 10.1002/gcc.22021

  17. You have full text access to this OnlineOpen article
    Are de novo rea(21;21) chromosomes really de novo?

    Clinical Case Reports

    Volume 3, Issue 10, October 2015, Pages: 786–789, Bérénice Hervé, Thibaud Quibel, Stéphane Taieb, Mireille Ruiz, Denise Molina-Gomes and François Vialard

    Version of Record online : 26 AUG 2015, DOI: 10.1002/ccr3.341

  18. A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22

    American Journal of Medical Genetics

    Volume 105, Issue 2, 8 March 2001, Pages: 189–194, Jianjun Liu, Suh Hang Juo, Joseph D. Terwilliger, Adina Grunn, Xiaomei Tong, Miguel Brito, Jo Ellen Loth, Kyra Kanyas, Bernard Lerer, Jean Endicott, Graciela Penchaszadeh, Dr. T. Conrad Gilliam and Dr. Miron Baron

    Version of Record online : 11 APR 2001, DOI: 10.1002/ajmg.1195

  19. Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

    Pediatrics International

    Volume 50, Issue 4, August 2008, Pages: 597–599, Masanori Egashira, 1 Tatsuro Kondoh, 1 Hiroki Kawara, 2 Hideki Motomura, 1 Masato Tagawa, 1 Naoki Harada and 24 Hiroyuki Moriuchi 1

    Version of Record online : 25 AUG 2008, DOI: 10.1111/j.1442-200X.2008.02680.x

  20. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1711–1717, Eleni Katzaki, Gilles Morin, Marzia Pollazzon, Filomena Tiziana Papa, Sabrina Buoni, Joussef Hayek, Joris Andrieux, Laure Lecerf, Cornel Popovici, Aline Receveur, Michèle Mathieu-Dramard, Alessandra Renieri, Francesca Mari and Nicole Philip

    Version of Record online : 27 MAY 2010, DOI: 10.1002/ajmg.a.33478