Journal of Genetic Medicine  2012;9(1):35-37

doi:10.5734/JGM.2012.9.1.35

A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation.

Ja Hye KIM 1 ; Yoo Mi KIM ; Beom Hee LEE ; Ja Hyung KIM ; Eul Ju SEO ; Han Wook YOO

Affiliations

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Keywords

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

Country

Republic of Korea

Language

English

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.