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).
KeywordsStrabismus Club Foot Microcephaly Cryptorchidism Syndactyly
- Emanuel, B. S., Zackai, E. H., & Medne, L. (2015). Emanuel syndrome. GeneReviews. Available at http://www.ncbi.nlm.nih.gov/books/NBK1263/. Updated 5 Feb 2015.
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