A case of supernumerary derivative chromosome 22 syndrome in a child

Here we describe a rare case of an abnormal karyotype with supernumerary derivative chromosome der(22)t(11;22), associated Emanuel syndrome, in boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin anomaly from reciprocal translocation t(11;22) (q23;q11.2). At time examination, child had numerous anomalies development, facial dysmorphia, and small size external genitalia. In addition, there was pronounced delay psychomotor development because brain damage. We made attempt to perform comprehensive risks patient's health by generalizing cases syndrome described literature.