A Case Study of Distinctive Phenotypes Arising From Emanuel Syndrome in Two Karyotypically Identical Patients

ABSTRACT

@#Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is difficult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist accompanying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.