J Korean Soc Neonatol.  2005 Nov;12(2):212-216.

An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies

Affiliations
  • 1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. drparkms@ajou.ac.kr
  • 2Department of Pediatric Surgery, Ajou University School of Medicine, Suwon, Korea.

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.

Keyword

Chromosome 16; Unbalanced translocation; Congenital anomalies

MeSH Terms

Anus, Imperforate
Chromosomes, Human, Pair 16*
Hearing Loss, Sensorineural
Heart Septal Defects, Ventricular
Single Umbilical Artery
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