Literature DB >> 3228997

Clinical features in a de novo interstitial deletion 15q13 to q15.

S Autio1, H Pihko, C Tengström.   

Abstract

A boy with several dysmorphic features and suffering from mental and motor retardation was found to have a de novo interstitial deletion of chromosome 15, involving bands q13 to q15. His clinical picture is described and compared with the clinical features reported in other deletions of this chromosome, located or extending distally from the region associated with Prader-Willi syndrome.

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Year:  1988        PMID： 3228997     DOI： 10.1111/j.1399-0004.1988.tb02881.x

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


  5 in total

Review 1.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

2.  A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Authors:  L Morlé; M Bozon; J C Zech; N Alloisio; A Raas-Rothschild; C Philippe; J C Lambert; J Godet; H Plauchu; P Edery
Journal:  Am J Hum Genet       Date:  2000-10-13       Impact factor: 11.025

3.  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

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

Review 5.  Genetics of bipolar disorder.

Authors:  Berit Kerner
Journal:  Appl Clin Genet       Date:  2014-02-12
  5 in total

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