Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?

Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?

Background: Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In this context, we report a 10 years old Tunisian pati...

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Bibliographic Details
Main Authors: Rahma Touhami, Hajer Foddha, Eudeline Alix, Afef Jalloul, Soumaya Mougou-Zerelli, Ali Saad, Damien Sanlaville, Amel Haj Khelil
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
Psychomotor delay
epilepsy
facial dysmorphism
array CGH
deletion/duplication
BRAT1 gene
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1061539/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1061539/full

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