Literature DB >> 457145

Direct duplication 2p14 to 2p23.

E Yunis, J González, R Zuñiga, O M Torres de Caballero, A Mondragon.   

Abstract

A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14 to 2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.

Entities:  

Mesh：

Year:  1979        PMID： 457145     DOI： 10.1007/bf00286910

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  [Equilibrated 2-14 translocation in a mother and partial trisomy of a pair of the short branches of a number 2 chromosome in 2 of her children].

Authors:  C Stoll; J Messer; J Vors
Journal:  Ann Genet       Date:  1974-09

2.  [Familial 2-C translocation: 46,XYt(2p-;Cp+) and 46,XXCp+].

Authors:  K Bender; H Reinwein; L Z Gorman; U Wolf
Journal:  Humangenetik       Date:  1969-10

3.  The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred.

Authors:  U Francke; K L Jones
Journal:  Am J Dis Child       Date:  1976-11
  3 in total
  4 in total

1.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

2.  Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

Authors:  Elisabeth Mangold; Kerstin U Ludwig; Stefanie Birnbaum; Carlotta Baluardo; Melissa Ferrian; Stefan Herms; Heiko Reutter; Nilma Almeida de Assis; Taofik Al Chawa; Manuel Mattheisen; Michael Steffens; Sandra Barth; Nadine Kluck; Anna Paul; Jessica Becker; Carola Lauster; Gül Schmidt; Bert Braumann; Martin Scheer; Rudolf H Reich; Alexander Hemprich; Simone Pötzsch; Bettina Blaumeiser; Susanne Moebus; Michael Krawczak; Stefan Schreiber; Thomas Meitinger; Hans-Erich Wichmann; Regine P Steegers-Theunissen; Franz-Josef Kramer; Sven Cichon; Peter Propping; Thomas F Wienker; Michael Knapp; Michele Rubini; Peter A Mossey; Per Hoffmann; Markus M Nöthen
Journal:  Nat Genet       Date:  2009-12-20       Impact factor: 38.330

Review 3.  Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Authors:  A Mégarbané; N Souraty; M Prieur; D Theophile; P Chédid; J Augé; M Vekemans
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

4.  Tandem duplication (5q13 to 22) in a mentally deficient girl.

Authors:  E Kessel; R A Pfeiffer
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132
  4 in total

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