A case of Emanuel syndrome on a newborn girl with congenital heart defect
https://doi.org/10.25557/2073-7998.2019.09.34-39
Abstract
We report on a case of Emanuel syndrome on a newborn girl with congenital heart defect and high bowel obstruction, karyotype: 47,XX,+der(22)t(11;22)(q11.2;q23)pat. The report contains brief review of information from literature about formation of such rearrangement, clinical implications, and genetic counseling for this syndrome.
About the Authors
V. G. Antonenko
Research Centre for Medical Genetics; Moscow Regional Research and Clinical Institute («MONIKI»)
Russian Federation
Russian Federation
D. V. Svetlychnaya
Moscow Regional Research and Clinical Institute («MONIKI»); I.M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
N. V. Djurcova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
N. A. Haritonova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Review
For citations:
Antonenko V.G., Svetlychnaya D.V., Djurcova N.V., Haritonova N.A., Shilova N.V. A case of Emanuel syndrome on a newborn girl with congenital heart defect. Medical Genetics. 2019;18(9):34-39. (In Russ.) https://doi.org/10.25557/2073-7998.2019.09.34-39
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