A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

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 31 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.