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There are 27408 results for: content related to: A Rare Case of a Mosaic Unbalanced Translocation After Chorionic Villous Sampling

  1. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2691–2697, Sarah T. South, Heidi Whitby, Teresa Maxwell, Emily Aston, Arthur R. Brothman and John C. Carey

    Version of Record online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32516

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    Prenatal microarray analysis as second-tier diagnostic test: single-center prospective study

    Ultrasound in Obstetrics & Gynecology

    Volume 41, Issue 3, March 2013, Pages: 267–273, M. Schmid, S. Stary, S. Springer, D. Bettelheim, P. Husslein and B. Streubel

    Version of Record online : 4 MAR 2013, DOI: 10.1002/uog.12389

  3. A constitutional telomeric translocation showing meiotic instability

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1228–1233, D.J. Josifova, R. Mazzaschi, T. Ballard, C. Mackie Ogilvie and M. Splitt

    Version of Record online : 10 MAY 2006, DOI: 10.1002/ajmg.a.31216

  4. Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations

    American Journal of Medical Genetics

    Volume 102, Issue 2, 1 August 2001, Pages: 139–145, GopalRao V.N. Velagaleti, Lillian H. Lockhart, Frank C. Schmalstieg and Armond S. Goldman

    Version of Record online : 20 JUN 2001, DOI: 10.1002/ajmg.1444

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    Many unbalanced translocations show duplication of a translocation participant. Clinical and cytogenetic implications in myeloid hematologic malignancies

    American Journal of Hematology

    Volume 64, Issue 3, July 2000, Pages: 161–169, Bent Pedersen, Jan M. Nørgaard, Bjarne Bach Pedersen, Niels Clausen, Inge Helleberg Rasmussen and Karen Thorling

    Version of Record online : 15 JUN 2000, DOI: 10.1002/1096-8652(200007)64:3<161::AID-AJH4>3.0.CO;2-Q

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    4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2540–2550, Weimin Bi, Sau-Wai Cheung, Amy M. Breman and Carlos A. Bacino

    Version of Record online : 10 JUN 2016, DOI: 10.1002/ajmg.a.37796

  7. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)

    American Journal of Medical Genetics

    Volume 100, Issue 3, 1 May 2001, Pages: 187–190, Amy C. Baruch and Robert P. Erickson

    Version of Record online : 9 APR 2001, DOI: 10.1002/ajmg.1256

  8. The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation

    Journal of Paediatrics and Child Health

    Volume 16, Issue 3, September 1980, Pages: 196–200, D. HAIN, M. LEVERSHA, N. CAMPBELL, A. DANIEL, P. A. BARR and J. G. ROGERS

    Version of Record online : 10 MAR 2008, DOI: 10.1111/j.1440-1754.1980.tb01296.x

  9. Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester

    Prenatal Diagnosis

    Volume 21, Issue 9, September 2001, Pages: 726–728, Waldo Sepulveda, Cecilia Be, Ronald Youlton, Eduardo Carstens and Marcelo Reyes

    Version of Record online : 20 AUG 2001, DOI: 10.1002/pd.140

  10. An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 787–791, Hassan M. Minhas, Matthew F. Pescosolido, Matthew Schwede, Justyna Piasecka, John Gaitanis, Umadevi Tantravahi and Eric M. Morrow

    Version of Record online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35841

  11. Subtelomeric rearrangements detected in patients with idiopathic mental retardation

    American Journal of Medical Genetics

    Volume 107, Issue 4, 1 February 2002, Pages: 275–284, Britt-Marie Anderlid, Jacqueline Schoumans, Göran Annerén, Sigrid Sahlén, Mårten Kyllerman, Mihailo Vujic, Bengt Hagberg, Elisabeth Blennow and Magnus Nordenskjöld

    Version of Record online : 5 DEC 2002, DOI: 10.1002/ajmg.10029

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    Complexity of noninvasive prenatal screening and diagnostic testing for an unbalanced translocation involving chromosomes 5 and 18

    Prenatal Diagnosis

    Volume 34, Issue 2, February 2014, Pages: 195–198, H. Feenstra, T. Dunn, D. Lewis, K. Herrera, J. Foroutan, R. Calabio, A. Batey, E. Wang and J. A. Gebbia

    Version of Record online : 28 NOV 2013, DOI: 10.1002/pd.4270

  13. Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes

    Prenatal Diagnosis

    Volume 18, Issue 8, August 1998, Pages: 857–861, Philip D. Cotter, Arvind Babu, Judith P. Willner and Robert J. Desnick

    Version of Record online : 21 DEC 1998, DOI: 10.1002/(SICI)1097-0223(199808)18:8<857::AID-PD356>3.0.CO;2-F

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    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

    Prenatal Diagnosis

    Volume 31, Issue 3, March 2011, Pages: 235–243, The-Hung Bui, Annalisa Vetro, Orsetta Zuffardi and Lisa G. Shaffer

    Version of Record online : 10 FEB 2011, DOI: 10.1002/pd.2722

  15. Prader–Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization

    Clinical Genetics

    Volume 65, Issue 6, June 2004, Pages: 477–482, OD Klein, PD Cotter, DG Albertson, D Pinkel, WE Tidyman, MW Moore and KA Rauen

    Version of Record online : 18 MAY 2004, DOI: 10.1111/j.0009-9163.2004.00261.x

  16. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 220–223, Ikuko Takahashi, Tsutomu Takahashi, Kenichi Sawada, Keiko Shimojima and Toshiyuki Yamamoto

    Version of Record online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34382

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    Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing

    Clinical Case Reports

    Volume 3, Issue 10, October 2015, Pages: 849–853, Nerida Mansfield, Tom Boogert and Andrew McLennan

    Version of Record online : 3 SEP 2015, DOI: 10.1002/ccr3.352

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    Premature ovarian failure due to an unbalanced translocation on the X chromosome

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 108, Issue 2, February 2001, Pages: 229–232, M. Ashraf, N.S. Jayawickrama and P. Bowen-Simpkins

    Version of Record online : 22 DEC 2003, DOI: 10.1111/j.1471-0528.2001.00026.x

  19. A subtelomeric cryptic unbalanced translocation der (1)t(1;18)(q44;q23) in a severely retarded girl: similarities and differences to the deletion 1q42/43-ter syndrome

    Gene Function & Disease

    Volume 2, Issue 4, October 2001, Pages: 165–170, Matthias Drechsler, Frank Majewski, Barbara Leube, Vera M. Kalscheuer, Hans Hilger Ropers and Brigitte Royer-Pokora

    Version of Record online : 30 OCT 2001, DOI: 10.1002/1438-826X(200112)2:4<165::AID-GNFD165>3.0.CO;2-C

  20. 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 4, 15 November 2007, Pages: 393–398, Kristina Cusmano-Ozog, Melanie A. Manning and H. Eugene Hoyme

    Version of Record online : 9 OCT 2007, DOI: 10.1002/ajmg.c.30155