An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies.
- Author:
Ji Yeon LEE
1
;
Jae Eun YU
;
Yun Hye SHIN
;
Moon Sung PARK
;
Jeong HONG
Author Information
1. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. drparkms@ajou.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome 16;
Unbalanced translocation;
Congenital anomalies
- MeSH:
Anus, Imperforate;
Chromosomes, Human, Pair 16*;
Hearing Loss, Sensorineural;
Heart Septal Defects, Ventricular;
Single Umbilical Artery
- From:Journal of the Korean Society of Neonatology
2005;12(2):212-216
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical artery, ventricular septal defect and bilateral sensorineural hearing losses.
