Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

  • Kim, Ja-Hye (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Beom-Hee (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Ja-Hyung (Department of Pediatrics, Ulsan University Hospital) ;
  • Seo, Eul-Ju (Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
  • Received : 2012.05.20
  • Accepted : 2012.06.21
  • Published : 2012.06.30
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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.

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References

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