Investigation du syndrome de délétion 22q11.2 dans la première série pédiatrique de patients marocains
DOI :
https://doi.org/10.62438/tunismed.v103i2.5080Mots-clés :
Syndrome de délétion 22q11.2 , syndrome de DiGeorge , hybridation fluorescente in situ (FISH), amplification multiplex de sondes dépendant d'une ligation (MLPA) , hypocalcémie , cardiopathie congénitaleRésumé
Introduction : Le syndrome de délétion 22q11.2 (22q11DS) est un syndrome génétique autosomique dominant, fréquemment dû à une microdélétion située sur le chromosome 22, caractérisé par une grande variabilité clinique. Les méthodes cytogénétiques, telles que l'hybridation in situ en fluorescence (FISH), et les techniques de biologie moléculaire, telles que l’amplification multiplex de sondes dépendant d'une ligation (MLPA), sont utilisées pour identifier les délétions chromosomiques spécifiques de la région 22q11.2.
Objectif : Cette étude visait à décrire la première série de patients pédiatriques au Maroc, sélectionnés pour leur forte suspicion de syndrome de DiGeorge.
Méthodes : Dans le cadre d'une collaboration entre le Centre hospitalier universitaire Hassan II de Fès et le Centre hospitalier universitaire Abderrahim El Harouchi Ibn Rochd de Casablanca, au Maroc, une étude prospective a été menée de janvier 2021 à janvier 2024 sur 30 patients suspects d'être atteints du syndrome de DiGeorge. Les enfants inclus présentaient au moins deux signes majeurs de DGS. La confirmation diagnostique du 22q11DS a été obtenue par analyse FISH pour tous les patients. En outre, une analyse MLPA a été réalisée pour cinq patients parmi ceux dont le diagnostic a été confirmé par FISH. Le processus de MLPA comprenait l'extraction de l'ADN, l'amplification par PCR et l'électrophorèse capillaire, les résultats étant analysés à l'aide des logiciels GeneMapper et Coffalyser.
Résultats : Sur les 30 patients sélectionnés, 22 ont été confirmés comme ayant un 22q11DS. Parmi eux, 19 présentaient une cardiopathie congénitale et 17 avaient une hypocalcémie...( résumé tronqué à 250 mots.)
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