A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay
https://doi.org/10.25557/2073-7998.2020.10.51-55
Abstract
We report on a case of small supernumerary marker chromosome (sSMC) in a 3-year boy with facial anomalies and speech delay. The constitution of marker chromosome was designated by mFISH analysis as r(20)(p12q12). The problems of diagnostics of sSMC, containing the pericentromeric regions only, and genotype-phenotype correlations are discussied.
About the Authors
V. G. Antonenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
D. V. Svetlychnaya
M.F. Vladimirsky research institute
Russian Federation
Russian Federation
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. G. Kalinenkova
M.F. Vladimirsky research institute
Russian Federation
Russian Federation
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Review
For citations:
Antonenko V.G., Svetlychnaya D.V., Minzhenkova M.E., Shilova N.V., Kalinenkova S.G. A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay. Medical Genetics. 2020;19(10):51-55. (In Russ.) https://doi.org/10.25557/2073-7998.2020.10.51-55
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