Emanuel Syndrome: A Case Report
Keywords:
Emanuel syndrome, supernumerary derivative (22) syndrome, t(11;22), trisomy 11, trisomy 22Abstract
Emanuel Syndrome or Supernumerary derivative (22) syndrome is one of the rare genomic syndromes. It is characterised by severe mental retardation, microcephaly, failure to thrive, ear anomalies, pre-auricular tags or sinus, cleft palate or high arch palate, micrognathia, renal anomalies, congenital cardiac defects and genital abnormalities in males . In 99 percent of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. We report the first known case, a male neonate, of supernumerary derivative (22) syndrome.
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