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Clinical and molecular-genetics diagnosis of microdeletion Xp11.4
https://doi.org/10.25557/2073-7998.2020.03.35-36
Abstract
Сlinical and molecular-genetic study results of a girl with developemental and psychomotor delay, lack of speech development, microcephaly, and pontocerebellar hypoplasia are presented. Chromosomal microarray analysis revealed a deletion of Xp11.4 affecting the CASK gene that is associated with clinical manifestations of MICPCH-syndrome.
Keywords
микроделеция Хр11 4,
ген CASK,
ХМА,
MICPCH-синдром,
microdeletion Xp11 4,
CASK gene,
CMA,
MICPCH-syndrome
About the Authors
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Z. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Review
For citations:
Minzhenkova M.E., Markova Z.G., Markova T.V., Shilova N.V. Clinical and molecular-genetics diagnosis of microdeletion Xp11.4. Medical Genetics. 2020;19(3):35-36. (In Russ.) https://doi.org/10.25557/2073-7998.2020.03.35-36
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