Partial trisomy of chromosome 18q11.2-q12: A case report.
10.3345/kjp.2009.52.10.1171
- Author:
Ah Ra CHO
1
;
Hye Ryoun KIM
;
Mi Kyung LEE
;
Sin Weon YUN
;
Jung Ju LEE
Author Information
1. Department of Laboratory Medicine, College of Medicine, Chung Ang University, Seoul, Korea. hyekim@cau.ac.kr
- Publication Type:Case Report
- Keywords:
Edwards syndrome;
Partial trisomy 18;
Prognosis
- MeSH:
Chromosomes, Human, Pair 18;
Foot;
Hand;
Hernia, Umbilical;
Humans;
Intellectual Disability;
Phenotype;
Prognosis;
Survival Rate;
Trisomy
- From:Korean Journal of Pediatrics
2009;52(10):1171-1174
- CountryRepublic of Korea
- Language:English
-
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.
