14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure
Journal of Genetic Medicine
;
: 62-66, 2011.
Article
Dans Anglais
| WPRIM
| ID: wpr-183560
ABSTRACT
Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Crises épileptiques
/
Chromosomes humains de la paire 14
/
Enfant d'âge préscolaire
/
Chimère
/
Hybridation in situ
/
Hybridation génomique comparative
/
Fluorescence
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2011
Type:
Article
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