Literature DB >> 9805129

Partial trisomy of chromosome 6q: an interstitial duplication of the long arm.

S M Zneimer1, B Ziel, R Bachman.   

Abstract

We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a "carp" mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is of chromosome 6 origin. This further delineates the dup(6q) syndrome and the manifestations due to the specific duplicated chromosomal region involved.

Entities:  

Mesh：

Year:  1998        PMID： 9805129

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


  6 in total

1.  Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.

Authors:  C Diatloff-Zito; A Nicole; G Marcelin; H Labit; E Marquis; C Bellanné-Chantelot; J J Robert
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

2.  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

3.  Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Authors:  Deborah J G Mackay; I Karen Temple; Julian P H Shield; David O Robinson
Journal:  Hum Genet       Date:  2005-01-06       Impact factor: 4.132

4.  Pure interstitial dup(6)(q22.31q22.31) - a case report.

Authors:  Frenny Sheth; Sunil Trivedi; Joris Andrieux; Jean-Louis Blouin; Jayesh Sheth
Journal:  Ital J Pediatr       Date:  2015-01-31       Impact factor: 2.638

5.  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

6.  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
  6 in total

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