Interstitial 11q24 deletion: a new case and review of the literature.
J Appl Genet
; 57(3): 357-62, 2016 Aug.
Article
em En
| MEDLINE
| ID: mdl-27020790
ABSTRACT
We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome da Deleção Distal 11q de Jacobsen
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Appl Genet
Assunto da revista:
GENETICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Itália