Balkan Journal of Medical Genetics

A CASE WITH EMANUEL SYNDROME: EXTRA DERIVATIVE 22 CHROMOSOME INHERITED FROM THE MOTHER
İkbal Atli E*, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H
*Corresponding Author: Emine İkbal Atli, Ph.D., Department of Medical Genetics, Faculty of Medicine, Trakya University, Campus Of Balkan, D100 Street, Edirne 22030, Turkey. Tel: +90-554-253-4030. Fax: +90- 284-223-4201. E-mail: emine.ikbal@gmail.com
page: 77

DISCUSSION

The recurrent constitutional t(11;22)(q23;q11) is the most frequent non Robertsonian translocation in humans. Similar to Robertsonian translocations and many other recurrent or non recurrent constitutional translocations, balanced carriers of the t(11;22) translocation usually have no clinical symptoms because this rearrangement does not disrupt functional genes. Balanced carriers, however, often have reproductive problems such as male infertility, recurrent pregnancy loss, and the birth of offspring with a chromosomal imbalance. Severely affected offspring have supernumerary der(22)t(11;22) syndrome [5] as a result of a 3:1 meiotic malsegregation of der(22)(4). The clinical features of ES arises from duplication of 22q10-22q11 and duplication of 11q23-qter on the supernumerary der(22) [2]. The exact incidence is unknown. This is a rare syndrome with reported cases of around 100. Male and female balanced carriers have a 0.7 and 3.7% risk of having children with supernumerary der(22), respectively. Clinical testing such as chromosomal analysis, FISH testing, whole chromosome paint (WCP), array genomic hybridization (aGH), or multiple ligation-dependent probe amplification (MLPA) (MRC-Holland, Amsterdam, The Netherlands) assay can be performed for the diagnosis of this syndrome. Highest mortality is in the first few months of life.While the true mortality rate in ES is unknown, long-term survival is possible, especially if the patient survives the infancy period. The reported case had all the classical features of ES [2] (Table 1). Almost all children with ES have global developmental delays and intellectual disabilities. Table 2 shows the list of clinical features observed in Emanuel syndrome. Management involves a multi disciplinary team approach involving pedodontist, pediatrician, plastic surgeon, geneticist, gastrologist, speech therapist, urologist, cardiologist, ear, nose and throat (ENT) surgeon and ophthalmologist. Two issues are important in terms of genetic counseling of these families. First, when one parent is a carrier of t(11;22), future pregnancies are at an increased risk for either ES, balanced t(11;22), or another meiotic malsegregation, thus, prenatal cytogenetic testing should be offered for future pregnancies. Secondly, carrier testing of the unaffected siblings should normally be offered when they have reached adulthood and are able to understand the reproductive implications of being a carrier [2]. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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