Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

Snezana Jancevska, Mile Kitanovski, Nevenka Laban, Dragan Danilovski, Velibor Tasic, Zoran S. Gucev
2015 PRILOZI  
Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Emanuel or supernumerary der(22)t(11;22) syndrome (OMIM609029). Mental and developmental retardation are major clinical features. The der(22) may arise from a parental balanced t(11;22)(q23;q11.2) or can be created de novo. Here we present a 2 years old boy with normal prenatal history, cyanotic at delivery and with ear anomalies, a preauricular tag, high-arched palate and micrognathia. There were
more » ... microcephaly, nor heart or kidney defects. Psychological and motor testing at the age of 2 years confirmed significant mental and developmental delay. In addition, the child had seizures and an abnormal electroencephalogram. Cytogenetic and molecular analyses revealed a karyotype 47,XY,+der(22)t(11;22)(q23;q11.2). As parents refused further tests it could not be determined if the der(22) arose de novo or was parentally derived. Overall the present report should alert physician to offer cytogenetic and/or molecular diagnostics in comparable cases.
doi:10.1515/prilozi-2015-0046 fatcat:kydtmyha5vg7jpdo3fo5forpre