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A new look at known syndromes: Angelman-Rett-like phenotype, interpretation of genetic testing results
https://doi.org/10.25557/2073-7998.2025.06.45-46
Abstract
A clinical case of a combination of phenotypic manifestations of Angelman and Rett syndromes in a patient with delayed motor development, intellectual disability, neurological manifestations and behavioral characteristics are presented. Genomic changes in the Xq28 locus were identified using the method of chromosomal microarray analysis. Based on the obtained results and literature data, a variant of the formation of genotype-phenotype associations is discussed.
Keywords
Angelman syndrome,
Rett syndrome,
chromosomal microarray analysis,
Xq28 locus,
MECP2 gene,
UBE3A gene,
loss of heterozygosity
Supporting agencies: Republican budget funds.
About the Authors
S. V. Golubeva
Republican Scientific Practical Centre «Mother and child»
Belarus
Belarus
66, Orlovskaya st., Minsk, 220053
E. G. Trebka
Republican Scientific Practical Centre «Mother and child»
Belarus
Belarus
66, Orlovskaya st., Minsk, 220053
References
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2. Abaturov A.E., Petrenko L.L., Krivusha E.L. Sindrom Angel’mana. Chast’ 1. Etiologiya i patogenez [Angelman syndrome. Part 1. Etiology and pathogenesis]. Zdorov’ye rebenka [Child health]. 2015: 65(5): 83-92. (In Russ.)
3. Neul J.L., Kaufmann W.E., Glaze D.G., et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol. 2010; 68(6):944–950. doi: 10.1002/ana.22124
4. OMIM *300005 – [Electronic resource]: Data base. Mode of access: https://omim.org/entry/300005?search=Rett&highlight=rett. Date of access: 17.03.2025.
Review
For citations:
Golubeva S.V., Trebka E.G. A new look at known syndromes: Angelman-Rett-like phenotype, interpretation of genetic testing results. Medical Genetics. 2025;24(6):45-46. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.45-46
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