Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

Popescu, D.E.; Marian, D.; Zeleniuc, M.; Samoila, Ch.; Belengeanu, V.

doi:10.2478/bjmg-2023-0006

Cited by 1 publication

(1 citation statement)

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“…Однако с ростом объема данных и совершенствованием методов анализа генома стало ясно, что делеция гена LETM1 не является единственным условием развития судорог при СВХ [22]. В 2023 г. в журнале «Медицинская генетика» [2] были опубликованы результаты анализа группы пациентов с СВХ.…”

Section: к л и н и ч е с к и е н а б л ю д е н и я / C L I N I C a L ...unclassified

Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations

Sokolov,

Chebanenko,

Fedotova

et al. 2024

Rus. ž. det. nevrol.

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Progress in molecular genetics is gradually leading to a radical revision of the understanding of the nature of not only recognized genetically determined diseases, but also those whose genetic nature has only been assumed. More and more information is emerging about polygenic and/or multifactorial diseases. The authors P.L. Sokolov and N.V. Chebanenko in 2022 proposed the concept of a neurotropic genome and the classification of genes, according to their “areas of responsibility” – points of application of determinant activity. There is a growing number of scientific works on the dependence of the pathological phenotype on the nature of the mutation and its localization along the gene.In this article, using the example of Wolf–Hirschhorn syndrome, variants of the dependence of the phenotype on the location of the genome abnormality are considered. A case of a disease from the authors’ practice, in which epilepsy and cerebral palsy predominate, is presented; the phenotype is analyzed with the nature and location of the identified genetic anomaly. The authors make assumption about the connection between the nature and location of the genome anomaly and the characteristics of the phenotype.

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Section: к л и н и ч е с к и е н а б л ю д е н и я / C L I N I C a L ...unclassified