A Unique Phenotype of 2q24.3–2q32.1 Duplication
| Autor: | Yong Seung Hwang, Mi Jung Woo, Woong-Yang Park, Byung Chan Lim, Jin Sun Choi, Byung Joo Min, Ki Joong Kim, Jong Hee Chae, Sun Kyung Oh |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Developmental Disabilities Mesomelic Dysplasia Trisomy Chromosomal translocation Biology Translocation Genetic Fathers Hypoplastic Left Heart Syndrome Gene duplication Humans Global developmental delay In Situ Hybridization Fluorescence Genetics Comparative Genomic Hybridization Brain Infant Chromosome Electroencephalography Phenotype Aicardi Syndrome Chromosomes Human Pair 2 Pediatrics Perinatology and Child Health Neurology (clinical) Mesomelic dysplasia Kantaputra type Spasms Infantile Comparative genomic hybridization |
| Zdroj: | Journal of Child Neurology. 29:260-264 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073813478659 |
| Popis: | The voltage-gated sodium channel genes and HOXD genes are clustered on chromosome 2q, and duplication of this region is associated with 2 clinical phenotypes: early-onset epilepsy and mesomelic dysplasia Kantaputra type, respectively. We report a case involving 2q24.3–2q32.1 duplication encompassing both the voltage-gated sodium channel and HOXD gene clusters, which were detected by a comparative genomic hybridization array. The associated clinical features were early-infantile-onset epilepsy, hypoplastic left heart syndrome, and global developmental delay. However, no features of mesomelic dysplasia were found. A fluorescent in situ hybridization study showed that the noncontiguous insertion of the duplicated chromosome 2q segment into chromosome 6q was inherited from the father, who has a balanced insertional translocation. The unique genotype–phenotype correlation in the present case suggests that dosage-sensitive effects might apply only to the voltage-gated sodium channel genes. |
| Databáze: | OpenAIRE |
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