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Xq13.3-q21.1 microduplication in a female fetus: a case report
https://doi.org/10.25557/2073-7998.2022.04.38-44
Abstract
We presented a clinical case report about the complexity of the choice of pregnancy management when identifying the X-chromosome duplication using prenatal diagnostic methods. Thus, a chromosomal rearrangement dup(X)(q13.3q21.1) was diagnosed by molecular karyotyping of amniotic fluid in a female fetus with phenotype features: left hand polydactyly, right hand polydactyly in question, hyperechoic intestine.
About the Authors
K. A. Svirepova
National medical research center for obstetrics, gynecology and perinatology named after academician V.I.Kulakov
Russian Federation
Russian Federation
M. V. Kuznetsova
National medical research center for obstetrics, gynecology and perinatology named after academician V.I.Kulakov
Russian Federation
Russian Federation
N. A. Karetnikova
National medical research center for obstetrics, gynecology and perinatology named after academician V.I.Kulakov
Russian Federation
Russian Federation
D. Yu. Trofimov
National medical research center for obstetrics, gynecology and perinatology named after academician V.I.Kulakov
Russian Federation
Russian Federation
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Review
For citations:
Svirepova K.A., Kuznetsova M.V., Karetnikova N.A., Trofimov D.Yu. Xq13.3-q21.1 microduplication in a female fetus: a case report. Medical Genetics. 2022;21(4):38-44. (In Russ.) https://doi.org/10.25557/2073-7998.2022.04.38-44
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