A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy / 소아과
Korean Journal of Pediatrics
;
: 108-111, 2005.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arm
/
Ring Chromosomes
/
Seizures
/
Brain
/
Magnetic Resonance Imaging
/
Epilepsy
/
Karyotype
/
Intellectual Disability
/
Mosaicism
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Korean Journal of Pediatrics
Year:
2005
Type:
Article
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