2015
DOI: 10.1515/prilozi-2015-0046
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Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

Abstract: 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 neither microceph… Show more

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“…The der (22) may arise from a parental balanced t (11; 22) (q23; q11.2) or can be created de novo [2]. Mental and developmental retardation is frequently seen.…”
Section: Discussionmentioning
confidence: 99%
“…The der (22) may arise from a parental balanced t (11; 22) (q23; q11.2) or can be created de novo [2]. Mental and developmental retardation is frequently seen.…”
Section: Discussionmentioning
confidence: 99%