J Genet Med.  2012 Jun;9(1):35-37. 10.5734/JGM.2012.9.1.35.

A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Pediatrics, Ulsan University Hospital, Ulsan, Korea.
  • 4Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.

Keyword

Emanuel syndrome; Supernumerary der(22) syndrome; Congenital abnormalities
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