Emanuel syndrome (ES): new case-report and review of the literature

Jancevska, Snezana and Kitanovski, Mile and Laban, Nevenka and Danilovski, Dragan and Tasic, Velibor and Gucev, Zoran (2015) Emanuel syndrome (ES): new case-report and review of the literature. Contributions. Sec. Med. Sci., 36 (1). pp. 205-208. ISSN 1857-9345

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Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Ema-nuel or supernumerary der(22)t(11;22) syndrome (OMIM609029). Mental and developmental retar-dation 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 anoma-lies, a preauricular tag, high-arched palate and micrognathia. There were neither 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 electroence-phalogram. 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.

Item Type: Article
Uncontrolled Keywords: Emanuel syndrome, congenital anomalies, derivative chromosome 22 {der(22)t(11;22)}.
Subjects: Medical and Health Sciences > Health sciences
Divisions: Faculty of Medical Science
Depositing User: Biljana Kosturanova
Date Deposited: 15 Oct 2015 09:57
Last Modified: 15 Oct 2015 09:57
URI: https://eprints.ugd.edu.mk/id/eprint/13989

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