A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

• 발행기관: 대한의학유전학회
• 저자명: Ja Hye Kim Yoo-Mi Kim Beom Hee Lee Ja-Hyung Kim Eul-Ju Seo Han-Wook Yoo
• 간행물 정보: 『대한의학유전학회지』제9권 제1호, 35~37쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2012.09.01

영문 초록

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.

목차

Introduction

Case Report

Discussion

References

키워드

Emanuel syndrome Supernumerary der(22) syndrome Congenital abnormalities