Emanuel Syndrome (Supernumerary Derivative 22), theResult of a Maternal Translocation. A Case Report

摘要

The Emanuel syndrome, or the supernumerary derivative 22, is found to be associated with multiple congenital abnormalities, such aspreauricular pits, cardiac defects, and profound mental retardation. It is caused by an incorrect segregation of a balanced translocation(11;22) that is present in one of the parents. In this case, we present a 6-year-old female child with the clinical characteristics of thesyndrome, which was evaluated in the child at the age of 8 months and with the presence of the supernumerary der(22) 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype in 50 analyzed cells, deriving from a 46,XX,t(11;22)(q23.3;q11.2) maternal translocation. The results ofthe karyotype were confirmed by fluorescent in situ hybridization (FISH), which demonstrated three TUPLE-probe signals in 22q11.2:47,XX,+der(22)t(11;22)(q23.3;q11.2).ish 22q11.2(TUPLE1x3),22q13(ARSAX2) and three signals for 11q subtelomeric probes. Thekaroytype of the father was 46,XY, i.e., normal.