A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

Kim, Ja Hye; Kim, Yoo-Mi; Lee, Beom Hee; Kim, Ja-Hyung; Seo, Eul‐Ju; Yoo, Han‐Wook

doi:10.5734/jgm.2012.9.1.35

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…ES patients have a karyotype 47,XX,+der(22)t(11;22)(q23;q11) in females or 47,XY,+der(22)t(11;22)(q23;q11) in males [2,[6][7][8][9][10][11]. The supernumerary chromosome can be of maternal [9][10][11] or paternal origin [12,13]. It is of note that ES is the most frequently observed, recurrent, non-Robertsonian translocation in humans.…”

Section: Discussionmentioning

confidence: 99%

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

Jancevska¹,

Kitanovski²,

Laban

et al. 2015

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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 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.

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Section: Discussionmentioning

confidence: 99%

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

Jancevska¹,

Kitanovski²,

Laban

et al. 2015

Prilozi

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“…While the true mortality rate in Emanuel syndrome is unknown, long-term survival is possible [3]. Emanuel syndrome is also referred to as derivative 22 syndrome, derivative 11;22 syndrome, partial trisomy 11;22, or supernumerary der (22)t(11;22) syndrome [2, 4, 5]. …”

Section: Introductionmentioning

confidence: 99%