Literature DB >> 9805125

Duplication 6q21q23 in two unrelated patients.

V M Pratt1, J R Roberson, L Weiss, D L Van Dyke.   

Abstract

We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies.

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Year:  1998        PMID: 9805125     DOI: 10.1002/(sici)1096-8628(19981102)80:2<112::aid-ajmg4>3.0.co;2-u

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

Authors:  Anne-Claude Tabet; Azzedine Aboura; Marion Gérard; Marion Pilorge; Céline Dupont; Jean-François Gadisseux; Nadège Hervy; Eva Pipiras; Andrée Delahaye; Samia Kanafani; Alain Verloes; Brigitte Benzacken; Catalina Betancur
Journal:  Am J Med Genet A       Date:  2010-07       Impact factor: 2.802

2.  Selection in the evolution of gene duplications.

Authors:  Fyodor A Kondrashov; Igor B Rogozin; Yuri I Wolf; Eugene V Koonin
Journal:  Genome Biol       Date:  2002-01-14       Impact factor: 13.583

3.  6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Authors:  Laurent Desch; Nathalie Marle; Anne-Laure Mosca-Boidron; Laurence Faivre; Marie Eliade; Muriel Payet; Clemence Ragon; Julien Thevenon; Bernard Aral; Sylviane Ragot; Azarnouche Ardalan; Nabila Dhouibi; Candace Bensignor; Christel Thauvin-Robinet; Salima El Chehadeh; Patrick Callier
Journal:  Mol Cytogenet       Date:  2015-06-25       Impact factor: 2.009

4.  Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Authors:  Malgorzata I Srebniak; Laura J C M van Zutven; Florence Petit; Sonia Bouquillon; Ilse P J van Heel; Maarten F C M Knapen; Jerome M J Cornette; Andreas Kremer; Diane Van Opstal; Karin E M Diderich
Journal:  Mol Cytogenet       Date:  2016-06-02       Impact factor: 2.009

5.  Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign.

Authors:  Fagui Yue; Hongguo Zhang; Lili Luo; Ruizhi Liu; Jili Jing
Journal:  Medicine (Baltimore)       Date:  2022-06-17       Impact factor: 1.817

  5 in total

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