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. 2016 Jul 9;18(2):77-82.
doi: 10.1515/bjmg-2015-0089. eCollection 2015 Dec 1.

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

E İkbal Atli, H Gürkan, Ü Vatansever, S Ulusal, H Tozkir

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

E İkbal Atli et al. Balkan J Med Genet. .

Abstract

Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11;22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47, XY, +der(22)t(11;22)(q23.3;q11.2). To ascertain the origin and trait of this supernumerary marker chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46, XX, t(11;22) (q23.3; q11.2).

Keywords: Emanuel syndrome (ES); Karyotyping; Supernumerary; Translocation.

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Figures

Figure 1
Figure 1
Pedigree of patient
Figure 2
Figure 2
The photograph shows the facial and head features of the patient.
Figure 3
Figure 3
Cranial MRI image of case
Figure 4
Figure 4
Karyotype of case + der(22)t(11;22) (arrowheads)
Figure 5
Figure 5
Karyotype of the mother [t(11;22)(q23.3;q11.2)].
Figure 6
Figure 6
Fluorescent in situ hybridization image of the patient with der(22)t(11;22); green signals the 22q13.3 and red signals the 22q11.21 region.
Figure 7
Figure 7
Fluorescent in situ hybridization image of the mother with t(11;22)(q23.3;q11.2); green signals the 22q13.3 and red signals the 22q11.21 region.
See this image and copyright information in PMC

References

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    1. OMIM 609029, Emanuel syndrome ( http://www. omim.org/entry/609029)

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