A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2

2003 ◽  
Vol 104 (s49) ◽  
pp. 39P-40P
Author(s):  
Simon Holden ◽  
Andreas Schroer ◽  
Sabine Kuebart ◽  
Ilke Slosarek ◽  
Catherine Bovie ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Mapping Strategy ◽  
Chromosome Breakpoint ◽  
Breakpoint Mapping

scholarly journals Autism and mental retardation: the genetic relationship and contribution

2001 ◽  
Vol 7 (3) ◽  
pp. 536-543
Author(s):  
M. A. El Hazmi
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Genetic Relationship ◽  
Genetic Disorders ◽  
Neurodevelopmental Disorder ◽  
Signs And Symptoms ◽  
Genetic Etiology ◽  
Etiological Factors

Autism, a neurodevelopmental disorder first described in 1943, is reviewed. The signs and symptoms of the disorder are described together with the etiological factors. The evidence for a genetic etiology of autism and its association with other genetic disorders are discussed. Possible candidate genes for autism are described.

A translocation t(6;7)(p11???p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints

2008 ◽  
Vol 18 (3) ◽  
pp. 101-109 ◽  
Author(s):  
John B. Vincent ◽  
Sanaa Choufani ◽  
Shin-ichi Horike ◽  
Beata Stachowiak ◽  
Martin Li ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Candidate Genes

scholarly journals X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11

2006 ◽  
Vol 15 (1) ◽  
pp. 68-75 ◽  
Author(s):  
Lars Riff Jensen ◽  
Steffen Lenzner ◽  
Bettina Moser ◽  
Kristine Freude ◽  
Andreas Tzschach ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Candidate Genes

scholarly journals Williams-Beuren syndrome: Report of two cases with molecular diagnosis

2011 ◽  
pp. 523-528
Author(s):  
Carolina Vargas ◽  
Wilmar Saldarriaga ◽  
Harry Mauricio Pachajoa ◽  
Carolina Isaza
Keyword(s):  
Mental Retardation ◽  
In Situ Hybridization ◽  
Aortic Stenosis ◽  
Candidate Genes ◽  
Molecular Diagnosis ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Syndrome Report

Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.

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