Rare chromosomal imbalance in the fetus: the experience of the application of array comparative genomic hybridization (aCGH) (clinical case)
https://doi.org/10.1234/XXXX-XXXX-2015-11-46-49
Abstract
The article presents a rare microdeletion syndrome 13q combined with duplication 10q, detected by array comparative genomic hybridization (aCGH) in a fetus with increased nuchal translucency and normal karyotyping result of chorionic villi. We also identified the father’s karyotype 46, XY, t (10; 13) (q26.1; q31.3). It is allowed us to estimate the prognosis and to offer prenatal diagnosis in following pregnancies. CGH method can be essential complement to standard cytogenetic methods and should be done in the all cases of fetuses with increased nuchal translucency.
About the Authors
N. A. Karetnikova
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
A. N. Ekimov
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
E. E. Baranova
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
V. A. Bakharev
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
D. Yu. Trofimov
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
A. I. Gus
Federal State Budget Institution «Research Center for Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
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Review
For citations:
Karetnikova N.A., Ekimov A.N., Baranova E.E., Bakharev V.A., Trofimov D.Yu., Gus A.I. Rare chromosomal imbalance in the fetus: the experience of the application of array comparative genomic hybridization (aCGH) (clinical case). Medical Genetics. 2015;14(11):46-49. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-11-46-49
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