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
Россия
Россия
M. E. Minzhenkova
Research Centre for Medical Genetics
Россия
Россия
Zh. G. Markova
Research Centre for Medical Genetics
Россия
Россия
A. A. Tarlycheva
Research Centre for Medical Genetics
Россия
Россия
E. L. Dadali
Research Centre for Medical Genetics
Россия
Россия
N. A. Demina
Research Centre for Medical Genetics
Россия
Россия
T. V. Markova
Research Centre for Medical Genetics
Россия
Россия
I. V. Anisimova
Research Centre for Medical Genetics
Россия
Россия
N. V. Shilova
Research Centre for Medical Genetics
Россия
Россия
References
1. Gavril E.-C., Luca A.C., Curpan A.-S. et al. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children. 2021; 8:751.
2. Shimizu K., Wakui K., Kosho T. et al. Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014; 164A:597-60
3. Gardner R.J., Amor D.J. Gardner and Sutherland`s Chromosome Abnormalities and Genetic Counselling (5 ed.). Oxford University Press. 2018.
4. Paz-y-Miño C., Proaño A., Verdezoto S. D. et al. Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review. BMC Medical Genomics. 2019; 12
5. Faravelli F., Murdolo M., Marangi G. et al. Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet Part A. 2007;143A:1169-1173.
6. Andersen E.F., Carey J.C., Earl D.L., Corzo D. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. Eur J Hum Genet. 2014; 22: 464-470.
7. Bi W., Cheung S.-W., Breman A.M., Bacino C.A. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet Part A. 2016; 9999A:1-11.
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
Views:
463
JATS XML
Email this article 