A Case of 4q Deletion with Partial Agenesis of Corpus Callosum
Journal of the Korean Pediatric Society
;
: 273-277, 2002.
Article
in Korean
| WPRIM
| ID: wpr-13329
ABSTRACT
Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief review of the literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skull
/
Chromosomes, Human, Pair 4
/
Extremities
/
Agenesis of Corpus Callosum
/
Heart Defects, Congenital
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2002
Type:
Article
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