Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
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Open Access
- 20 October 2005
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 353 (16) , 1694-1701
- https://doi.org/10.1056/nejmoa051962
Abstract
The Williams–Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.Keywords
This publication has 21 references indexed in Scilit:
- Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotypeAmerican Journal of Medical Genetics Part A, 2004
- Comparison of TFII‐I gene family members deleted in Williams‐Beuren syndromeProtein Science, 2004
- Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new casesAnnales de Genetique, 2004
- Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart DiseaseCirculation Research, 2004
- Williams-Beuren syndrome: a challenge for genotype-phenotype correlationsHuman Molecular Genetics, 2003
- Mutational Mechanisms of Williams-Beuren Syndrome DeletionsAmerican Journal of Human Genetics, 2003
- Human Chromosome 7: DNA Sequence and BiologyScience, 2003
- DECIPHERING THE GENETIC BASIS OF SPEECH AND LANGUAGE DISORDERSAnnual Review of Neuroscience, 2003
- MOLECULARMECHANISMS FORGENOMICDISORDERSAnnual Review of Genomics and Human Genetics, 2002
- Drawing by children with Williams syndrome: A developmental perspectiveDevelopmental Neuropsychology, 1997