Literature DB >> 7389182

Congenital heart disease with del(15q) mosaicism.

R Herva, O Vuorinen.   

Abstract

A male infant with mosaic interstitial deletion of 15q is described. He had some dysmorphic features and complicated congenital right side heart disease.

Entities:  

Mesh：

Year:  1980        PMID： 7389182     DOI： 10.1111/j.1399-0004.1980.tb00108.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

Authors:  Merlin G Butler; Douglas C Bittel; Nataliya Kibiryeva; Linda D Cooley; Shihui Yu
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

Review 2.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 3.  Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

Authors:  D P Duckett; S H Roberts
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Authors:  Maria Cristina Roberti; Cecilia Surace; Maria Cristina Digilio; Gemma D'Elia; Pietro Sirleto; Rossella Capolino; Antonietta Lombardo; Anna Cristina Tomaiuolo; Stefano Petrocchi; Adriano Angioni
Journal:  Orphanet J Rare Dis       Date:  2011-04-19       Impact factor: 4.123
  4 in total

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