A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy / 소아과
Korean Journal of Pediatrics
;
: 108-111, 2005.
Article
Dans Coréen
| WPRIM
| ID: wpr-42877
ABSTRACT
Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to- end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Bras
/
Chromosomes en anneau
/
Crises épileptiques
/
Encéphale
/
Imagerie par résonance magnétique
/
Épilepsie
/
Caryotype
/
Déficience intellectuelle
/
Mosaïcisme
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Coréen
Texte intégral:
Korean Journal of Pediatrics
Année:
2005
Type:
Article
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