Familial Williams-Beuren syndrome in three generations
https://doi.org/10.1234/XXXX-XXXX-2016-8-43-45
Abstract
Williams-Beuren syndrome (WBS) is a multisystem genomic disorder, caused by deletion on chromosome region 7q11.23. Majority of cases occur sporadically, and a few familial cases have been described. We report on the first case of WBS in three relatives in three generations with maternally transmission of the microdeletion. Intrafamilial variability of the clinical features was shown.
About the Authors
O. M. Khurs
National Research Centre «Mother and Child»
Russian Federation
Russian Federation
N. V. Rumiantseva
National Research Centre «Mother and Child»
Russian Federation
Russian Federation
V. D. Kulak
National Research Centre «Mother and Child»
Russian Federation
Russian Federation
I. V. Naumchik
National Research Centre «Mother and Child»
Russian Federation
Russian Federation
O. L. Zobikova
National Research Centre «Mother and Child»
Russian Federation
Russian Federation
O. A. Gromyko
National Research Centre «Mother and Child»
Russian Federation
Russian Federation
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Review
For citations:
Khurs O.M., Rumiantseva N.V., Kulak V.D., Naumchik I.V., Zobikova O.L., Gromyko O.A. Familial Williams-Beuren syndrome in three generations. Medical Genetics. 2016;15(8):43-45. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-8-43-45
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