A CASE OF DELETION OF CHROMOSOME 14q23.3
| Autor: | Nadia Imbrigiotta |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | Euromediterranean Biomedical Journal, Vol 7, Iss 16, Pp 75-76 (2012) |
| Druh dokumentu: | article |
| ISSN: | 1970-5492 2279-7165 |
| DOI: | 10.3269/1970-5492.2012.7.16 |
| Popis: | An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication. Interstitial deletions of the long arm of chromosome 14 are extremely rare. However, this case seems to confirm the possible role of genes located on the long arm of chromosome 14 in the maturation of cognitive development and relational abilities. |
| Databáze: | Directory of Open Access Journals |
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