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Emanuel Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Emanuel syndrome (ES) is an unbalanced translocation syndrome that usually arises through a 3:1 meiosis I malsegregation during gametogenesis in a balanced translocation phenotypically normal carrier (Shaikh et al. 1999). ES is a rare inherited chromosomal abnormality syndrome with over 100 cases reported (Fraccaro et al. 1990; Zackai and Emanuel 1980; Lin et al. 1986; Choudhary et al. 2013).

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References

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Emanuel Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_283

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_283

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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