A CASE OF DELETION OF CHROMOSOME 14q23.3
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. H...
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| Format: | Article |
| Language: | English |
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Associazione Italiana Giovani Medici
2012-03-01
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| Series: | Euromediterranean Biomedical Journal |
| Online Access: | http://www.embj.org/images/ISSUE_2012/imbrigiotta_16.pdf |
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doaj-e8cb30696ae045ef8251f9cbac27a46e2020-11-24T20:59:35ZengAssociazione Italiana Giovani MediciEuromediterranean Biomedical Journal2279-71652279-71652012-03-01716757610.3269/1970-5492.2012.7.16A CASE OF DELETION OF CHROMOSOME 14q23.3Nadia Imbrigiotta0University of MessinaAn 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. http://www.embj.org/images/ISSUE_2012/imbrigiotta_16.pdf |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Nadia Imbrigiotta |
| spellingShingle |
Nadia Imbrigiotta A CASE OF DELETION OF CHROMOSOME 14q23.3 Euromediterranean Biomedical Journal |
| author_facet |
Nadia Imbrigiotta |
| author_sort |
Nadia Imbrigiotta |
| title |
A CASE OF DELETION OF CHROMOSOME 14q23.3 |
| title_short |
A CASE OF DELETION OF CHROMOSOME 14q23.3 |
| title_full |
A CASE OF DELETION OF CHROMOSOME 14q23.3 |
| title_fullStr |
A CASE OF DELETION OF CHROMOSOME 14q23.3 |
| title_full_unstemmed |
A CASE OF DELETION OF CHROMOSOME 14q23.3 |
| title_sort |
case of deletion of chromosome 14q23.3 |
| publisher |
Associazione Italiana Giovani Medici |
| series |
Euromediterranean Biomedical Journal |
| issn |
2279-7165 2279-7165 |
| publishDate |
2012-03-01 |
| description |
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.
|
| url |
http://www.embj.org/images/ISSUE_2012/imbrigiotta_16.pdf |
| work_keys_str_mv |
AT nadiaimbrigiotta acaseofdeletionofchromosome14q233 AT nadiaimbrigiotta caseofdeletionofchromosome14q233 |
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1716782301525835776 |