Literature DB >> 2063892

Interstitial 15q deletion without a classic Prader-Willi phenotype.

F Galán1, M S Aguilar, J González, F Clemente, R Sánchez, M Tapia, M Moya.   

Abstract

We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, deafness, renal anomaly, and bifid uvula. The patient has a de novo proximal interstitial deletion of chromosome 15 reaching to band q14, larger than that usually seen in Prader-Willi and Angelman syndromes.

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Year:  1991        PMID： 2063892     DOI： 10.1002/ajmg.1320380406

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


  4 in total

1.  A boy with developmental delay and a maternally inherited deletion in 15q11q13.

Authors:  M King; C Hardy; B Asenbauer; M Kilpatrick; T Webb
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

2.  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

3.  Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

Authors:  R D Nicholls; W Gottlieb; L B Russell; M Davda; B Horsthemke; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1993-03-01       Impact factor: 11.205

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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