17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability
| Autor: | Florence Amblard, Gipsy Lopez, Gaëlle Vieville, Véronique Satre, Françoise Devillard, Charles Coutton, Pierre-Simon Jouk |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Genetics Comparative Genomic Hybridization Candidate gene Clinodactyly Adolescent Silver–Russell syndrome Biology Microdeletion syndrome medicine.disease Phenotype Silver-Russell Syndrome Genotype-phenotype distinction Intellectual Disability Chromosome Duplication Gene duplication Intellectual disability medicine Humans medicine.symptom Genetic Association Studies In Situ Hybridization Fluorescence Genetics (clinical) Chromosomes Human Pair 17 |
| Zdroj: | American Journal of Medical Genetics Part A. :2564-2570 |
| ISSN: | 1552-4825 |
| Popis: | Many deletions of chromosome 17p13.1 have been described, but very few 17p13.1 duplications have been reported yet. Here, we describe the genotype and phenotype of a boy with a duplication of this region. The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver–Russell syndrome (SRS) appearance with small triangular face, prominent forehead, micrognathia, low-set ears, and clinodactyly. Array-CGH revealed a 586 kb duplication containing many genes with a high neuronal expression. Interestingly, this region covers the minimal critical region including all candidate genes suggested to explain the 17p13.1 microdeletion syndrome. In the neighboring region 17p13.3, deletions and duplications of the same region are each responsible of a specific phenotype. Future case descriptions will show if a similar mechanism applies to the region 17p13.1. The 17p13.1 region contains interesting putative candidate genes that might be involved in the SRS etiology. Additional data are needed to verify the significance of this aberration. © 2012 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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