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There are 19474 results for: content related to: Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

  1. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes

    American Journal of Medical Genetics

    Volume 72, Issue 4, 12 November 1997, Pages: 440–447, John A. Crolla, Peter Howard, Caroline Mitchell, Fiona L. Long and Nicholas R. Dennis

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971112)72:4<440::AID-AJMG13>3.0.CO;2-R

  2. SKY™ assessment of two karyotypes with 0–6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 2, 15 April 2003, Pages: 156–171, Kavita S. Reddy, Shirong Wang, Shannon Groh and John Gonatos

    Article first published online : 17 MAR 2003, DOI: 10.1002/ajmg.a.10045

  3. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1871–1874, Valérie Bélien, Marion Gérard-Blanluet, Stéphane Serero, Nathalie Le Dû, Clarisse Baumann, Marie-Line Jacquemont, Céline Dupont, Kada Krabchi, Séverine Drunat, Annie Elbez, Jean-Claude Janaud, Brigitte Benzacken, Alain Verloes, Anne-Claude Tabet and Azzedine Aboura

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32392

  4. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome

    American Journal of Medical Genetics

    Volume 49, Issue 1, 1 January 1994, Pages: 77–82, Dr. Miguel Urioste, Guillermo Visedo, Amparo Sanchís, Carlos Sentís, Amelia Villa, Paloma Ludeña, José L. Hortigüela, María Lusia Martínez-Frías and José Fernández-Piqueras

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320490114

  5. An unusual case of cat-eye syndrome phenotype and extragonadal mature teratoma: Review of the literature

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 7, July 2012, Pages: 561–566, Maria Tzetis, Kalliopi Stefanaki, Areti Syrmou, Konstantina Kosma, Eleni Leze, Krinio Giannikou, Vasilis Oikonomakis, Christalena Sofocleous, Michael Choulakis, Aggeliki Kolialexi, Periklis Makrythanasis and Sophia Kitsiou–Tzeli

    Article first published online : 22 JUN 2012, DOI: 10.1002/bdra.23038

  6. You have full text access to this Open Access content
    A hereditary bisatellite-dicentric supernumerary chromosome in a case of Cat-eye Syndrome

    Hereditas

    Volume 111, Issue 1, August 1989, Pages: 7–10, GÜVEN LÜLECI, GÜLSEREN BAGCI, MÜRÜVET KIVRAN, ERSIN LÜLECI, SIRRI BEKTAŞ and SEHER BAŞARAN

    Article first published online : 14 FEB 2008, DOI: 10.1111/j.1601-5223.1989.tb00369.x

  7. Further delineation of the supernumerary chromosome in the Cat-Eye Syndrome

    Clinical Genetics

    Volume 12, Issue 5, November 1977, Pages: 275–284, K. E. Toomey, T. Mohandas, J. Leisti, G. Szalay and M. M. Kaback

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1977.tb00941.x

  8. Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

    Prenatal Diagnosis

    Volume 13, Issue 5, May 1993, Pages: 385–394, M. R. Verschraegen-Spae, N. Van Roy, A. De Perdigo, A. De Paepe and F. Speleman

    Article first published online : 21 NOV 2005, DOI: 10.1002/pd.1970130511

  9. THE CAT-EYE SYNDROME WITH UNUSUAL SKELETAL MALFORMATIONS

    Acta Paediatrica

    Volume 63, Issue 4, July 1974, Pages: 623–626, SEVIM BALCI, CHARLOTTE HALICIOGLU, BURHAN SAY and KUTAY TAYSI

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1974.tb04858.x

  10. Cat-eye syndrome with different marker chromosomes in a mother and daughter

    American Journal of Medical Genetics

    Volume 26, Issue 3, March 1987, Pages: 621–628, Dr. Paul S. Ing, Mark S. Lubinsky, Shelley D. Smith, Ellen Golden, Warren G. Sanger, Alessandra M. V. Duncan, John M. Opitz and James F. Reynolds

    Article first published online : 4 JUN 2005, DOI: 10.1002/ajmg.1320260317

  11. Cat-eye syndrome with unusual marker chromosome probably not chromosome 22

    American Journal of Medical Genetics

    Volume 18, Issue 1, May 1984, Pages: 19–24, Dr. Warren Rosenfeld, Ram S. Verma, Ramesh C. Jhaveri and John M. Opitz

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320180105

  12. Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome

    American Journal of Medical Genetics

    Volume 103, Issue 3, 15 October 2001, Pages: 193–197, Gloria Tung, Susan M. Covert, Katherine L. Malabed, Monica M. Wohlferd, Karen P. Beckerman, James D. Goldberg and Philip D. Cotter

    Article first published online : 30 AUG 2001, DOI: 10.1002/ajmg.1565

  13. Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

    American Journal of Medical Genetics

    Volume 29, Issue 1, January 1988, Pages: 9–19, Dr. R. E. Magenis, R. R. Sheehy, M. G. Brown, H. E. McDermid, B. N. White, J. Zonana, R. Weleber, John M. Optiz and James F. Reynolds

    Article first published online : 4 JUN 2005, DOI: 10.1002/ajmg.1320290103

  14. Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 20, 15 October 2007, Pages: 2423–2429, Carme Morales, Anna Soler, Ester Margarit, Irene Madrigal and Aurora Sánchez

    Article first published online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31777

  15. Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter[RIGHTWARDS ARROW]q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features

    Clinical Genetics

    Volume 28, Issue 6, December 1985, Pages: 509–515, J. Gabarrón, G. Glover, A. Jimenez and E. Lamata

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1985.tb00418.x

  16. Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome

    American Journal of Medical Genetics

    Volume 58, Issue 3, 11 September 1995, Pages: 277–281, Christine A. Hough, Bradley N. White and Jeanette J. A. Holden

    Article first published online : 16 MAY 2005, DOI: 10.1002/ajmg.1320580315

  17. A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

    Prenatal Diagnosis

    Volume 15, Issue 7, July 1995, Pages: 615–619, K. Brøndum-Nielsen and M. Mikkelsen

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970150705

  18. THE CAT-EYE SYNDROME REVIEW AND TWO FURTHER CASES OCCURRING IN FEMALE SIBLINGS WITH NORMAL CHROMOSOMES

    Acta Paediatrica

    Volume 61, Issue 5, September 1972, Pages: 581–586, R. C. FRANKLIN and M. I. PARSLOW

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1972.tb15949.x

  19. Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

    Prenatal Diagnosis

    Volume 14, Issue 11, November 1994, Pages: 1029–1034, Suzanne L. Reeser, Alan E. Donnenfeld, Robert C. Miller, Beatrice S. Sellinger, Beverly S. Emanuel and Deborah A. Driscoll

    Article first published online : 5 DEC 2005, DOI: 10.1002/pd.1970141104

  20. Typical and partial cat eye syndrome: identification of the marker chromosome by FISH

    Clinical Genetics

    Volume 42, Issue 2, August 1992, Pages: 91–96, T. Liehr, R. A. Pfeiffer and U. Trautmann

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1992.tb03146.x