Variability of Formation Mechanisms of Chromosomal imbalance in Wolf-Hirschhorn Syndrome
https://doi.org/10.25557/2073-7998.2022.11.59-61
Abstract
Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is one of the most common microdeletion syndromes, represented by a heterozygous deletion of the short arm of chromosome 4 (4p16.3). The main clinical features of patients with WHS include: craniofacial features - “Greek warrior helmet”, prenatal and postnatal growth deficiency, developmental disability of variable degree, and seizures. To date, several mechanisms for the formation of 4p16.3 deletions and several critical regions responsible for phenotypic manifestations in patients have been described. In our study, we present five cases of 4p16.3 deletion with different origins and mechanisms of formation.
About the Authors
D. A. Yurchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. A. Tarlycheva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. A. Demina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Anisimova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Yurchenko D.A., Minzhenkova M.E., Markova Zh.G., Tarlycheva A.A., Dadali E.L., Demina N.A., Markova T.V., Anisimova I.V., Shilova N.V. Variability of Formation Mechanisms of Chromosomal imbalance in Wolf-Hirschhorn Syndrome. Medical Genetics. 2022;21(11):59-61. (In Russ.) https://doi.org/10.25557/2073-7998.2022.11.59-61
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