Pure proximal deletion of chromosome 21 and kyphosis
| Autor: | Béatrice Laudier, Damien Sanlaville, Céline Bernardin, Annick Toutain, Delphine Héron, Michel Vekemans, Serge Romana, Boris Keren, Louise Telvi, Bernard Fouquet |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Chromosomes Human Pair 21 Kyphosis Clone (cell biology) Biology Genetics medicine Humans Child Gene Genetics (clinical) medicine.diagnostic_test Breakpoint Chromosome Breakage General Medicine Telomere medicine.disease Phenotype Female Chromosome Deletion Chromosome breakage Chromosome 21 Fluorescence in situ hybridization |
| Zdroj: | European Journal of Medical Genetics. 50:469-474 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2007.08.001 |
| Popis: | We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. The deletion encompassed 14.5Mb of DNA. Molecular studies showed that the two telomeric breakpoints were within the same DNA clone (BAC RP11-56D12). The centromeric breakpoints, however, were separated by only 250kb of DNA (BAC RP11-645E14 and RP11-324B9). The phenotype observed in the two patients was very different, as patient 2, who had the largest deletion, had severe kyphosis not observed in patient 1. Previous studies have identified a 6Mb region of chromosome 21 associated with severe kyphosis. Interestingly, this region overlaps the 250kb segment deleted in patient 2. We suggest that one gene (NT011512.4) located in this small overlapping region might be responsible for severe kyphosis. |
| Databáze: | OpenAIRE |
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