Partial trisomy of chromosome 18q11.2-q12: A case report / 소아과
Korean Journal of Pediatrics
;
: 1171-1174, 2009.
Article
in English
| WPRIM
| ID: wpr-123708
ABSTRACT
Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Prognosis
/
Trisomy
/
Chromosomes, Human, Pair 18
/
Survival Rate
/
Foot
/
Hand
/
Hernia, Umbilical
/
Intellectual Disability
Type of study:
Prognostic study
Limits:
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2009
Type:
Article
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