1. Репозитарій НУОЗ України імені П. Л. Шупика
  2. Український державний інститут репродуктології
  3. Кафедра медичної та лабораторної генетики
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dc.contributor.authorЛастівка, І.-
dc.contributor.authorШейко, Л.-
dc.contributor.authorБрішевац, Л.-
dc.date.accessioned2024-11-13T10:09:42Z-
dc.date.available2024-11-13T10:09:42Z-
dc.date.issued2024-
dc.identifier.citationhttps://doi.org/10.1038/s41431-023-01481-yuk_UK
dc.identifier.issnhttps://doi.org/10.1038/s41431-023-01481-y-
dc.identifier.urihttp://lib.inmeds.com.ua:8080/jspui/handle/lib/4999-
dc.descriptionHere is our own clinical observation of a 5-year-old boy suffering from epilepsy and mental retardation. The child was born at a gestational age of 38 weeks, weighing 3600 g, body length 53 cm. He held his head from 7 months, sat from 1 year, walked from 1 year 6 months. At4 months strabismus appeared. At the age of 4, he suffered from acute glomerulonephritis, epilepsy attacks began. Phenotype: macrocephaly, high forehead, protruding ears with soft cartilage, inferior prognathia. Based on clinical data and the result of portrait diagnostics using the Face2Gene computer program, a suspicion of mental retardation linked to a fragile X chromosome was established. Molecular genetic analysis (MLPA) revealed an allele of the FMR1 gene containing a complete mutation (200 CGG repeats), which made it possible to verify the diagnosis of Martin- Bell syndrome. Thus, an integrated approach to the examination of patients with epilepsy and mental retardation makes it possible to identify the cause, which is important in the treatment and socialization of the patient, as well as in the prevention of new similar cases in the family.uk_UK
dc.description.abstractThe relevance of studying X-linked forms of mental retardation is due to their prevalence and the importance of medical genetic counseling for such families. The most frequent disease of this group is FraX syndrome. The diagnosis of fragile X syndrome is based on clinical criteria and paraclinical examination methods. The technology of complex DNA diagnostics includes high- throughput parallel DNA sequencing, multiplex ligated probe ampli fi cation, and multiplex methyl-sensitive PCR.uk_UK
dc.language.isoenuk_UK
dc.publisherEuropean Journal of Human Geneticsuk_UK
dc.relation.ispartofseriesVol. 32, Suppl. 1.;P.190-191.-
dc.subjectX-linked forms of mental retardationuk_UK
dc.subjectfragile X syndromeuk_UK
dc.titleAn integrated approach to the diagnosis of mental retardation linked to a fragile X chromosomeuk_UK
dc.typeThesisuk_UK
Розташовується у зібраннях:Кафедра медичної та лабораторної генетики

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