Literature DB >> 11310995

Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.

E J Lammer1, D R Punglia, A E Fuchs, A G Rowe, P D Cotter.   

Abstract

A male is described with familial duplication of the distal long arm of the X chromosome (Xq27.2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter.

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Year:  2001        PMID： 11310995     DOI： 10.1097/00019605-200104000-00012

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  7 in total

1.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Authors:  Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Journal:  Am J Hum Genet       Date:  2005-07-29       Impact factor: 11.025

2.  MECP2 duplications in six patients with complex sex chromosome rearrangements.

Authors:  Amy M Breman; Melissa B Ramocki; Sung-Hae L Kang; Misti Williams; Debra Freedenberg; Ankita Patel; Patricia I Bader; Sau Wai Cheung
Journal:  Eur J Hum Genet       Date:  2010-12-01       Impact factor: 4.246

3.  Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Authors:  Katherine L Lachlan; Morag N Collinson; Richard O C Sandford; Berendine van Zyl; Patricia A Jacobs; N Simon Thomas
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

Review 4.  Clinical impacts of genomic copy number gains at Xq28.

Authors:  Toshiyuki Yamamoto; Keiko Shimojima; Shino Shimada; Kenji Yokochi; Shinsaku Yoshitomi; Keiko Yanagihara; Katsumi Imai; Nobuhiko Okamoto
Journal:  Hum Genome Var       Date:  2014-07-24

5.  Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Authors:  Jill Clayton-Smith; Sarah Walters; Emma Hobson; Emma Burkitt-Wright; Rupert Smith; Annick Toutain; Jeanne Amiel; Stanislas Lyonnet; Sahar Mansour; David Fitzpatrick; Roberto Ciccone; Ivana Ricca; Orsetta Zuffardi; Dian Donnai
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

Review 6.  Distal Xq duplication and functional Xq disomy.

Authors:  Damien Sanlaville; Caroline Schluth-Bolard; Catherine Turleau
Journal:  Orphanet J Rare Dis       Date:  2009-02-20       Impact factor: 4.123

7.  Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Authors:  Pamela Magini; Monica Poscente; Simona Ferrari; Manuela Vargiolu; Elena Bacchelli; Claudio Graziano; Anita Wischmeijer; Daniela Turchetti; Elisabetta Malaspina; Valentina Marchiani; Duccio Maria Cordelli; Emilio Franzoni; Giovanni Romeo; Marco Seri
Journal:  Mol Cytogenet       Date:  2015-08-01       Impact factor: 2.009
  7 in total

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