Investigation of 22q11.2 Deletion Syndrome in the first Moroccan Pediatric Patients series

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Published Feb 1, 2025
https://doi.org/10.62438/tunismed.v103i2.5080
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Vol. 103 No. 2 (2025): Tunis Med Feb 2025

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Asmaa Gaadi
Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca
Ahmed Aziz Bousfiha
Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University. Clinical Immunology Unit, Infectious Diseases Department, Children's Hospital, CHU Ibn Rochd, Casablanca, Morocco
Said Trhanint
Laboratory of Medical Genetics and Oncogenetics, Hassan II University Hospital, Fez, Morocco
Laila Bouguenouch
Faculty of Medicine and Pharmacy ‒ Sidi Mohammed Ben Abdellah University, University Hospital Hassan II, Fez, Morocco.
Mouna Lehlimi
Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University,Division of Neonatology, Department of Pediatrics, Abderrahim Harouchi Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco

Abstract

Introduction: The 22q11.2 deletion syndrome (22q11DS) is an autosomal dominant genetic syndrome, frequently due to a microdeletion located on chromosome 22, presenting a wide variety of clinical manifestations. Cytogenetic methods, such as fluorescence in situ hybridization (FISH), and molecular biology techniques, such as multiplex ligation-dependent probe amplification (MLPA), are used to identify chromosomal deletions specific to the 22q11.2 region.


Aim: This study aimed to describe the first series of pediatric patients in Morocco, selected for their strong suspicion of DiGeorge syndrome.


Methods: As part of a collaboration between the University Hospital Center Hassan II in Fez and the University Hospital Center Abderrahim El Harouchi Ibn Rochd in Casablanca, Morocco, a prospective study was carried out from January 2021 to January 2024 on 30 patients screened for DiGeorge syndrome (DGS). The children included had at least two major signs of DGS. Diagnostic confirmation of 22q11DS was obtained by FISH analysis for all patients. In addition, MLPA analysis was performed on five patients among those confirmed by FISH. The MLPA process included DNA extraction, PCR amplification and capillary electrophoresis, with results analyzed using GeneMapper and Coffalyser software.


Results: Of the 30 patients selected, 22 were confirmed as having a 22q11DS. Among these, 19 had congenital heart disease and 17 had hypocalcemia, which was often associated with hypoparathyroidism. Facial dysmorphia was almost constant, and thymic abnormalities were observed in half the patients. Recurrent infections, hematological disorders and immune abnormalities were also common, underlining the clinical complexity of the syndrome...(abstract truncated at 250 words)

Keywords:

22q11.2 deletion syndrome, DiGeorge syndrome, Fluorescence in situ hybridization (FISH), Multiplex ligation-dependent probe amplification (MLPA), Hypocalcemia, Congenital heart disease.

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Author Biographies

Ahmed Aziz Bousfiha, Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University. Clinical Immunology Unit, Infectious Diseases Department, Children's Hospital, CHU Ibn Rochd, Casablanca, Morocco

Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca.
Clinical Immunology Unit, Infectious Diseases Department, Children's Hospital, CHU Ibn Rochd, Casablanca, Morocco

Mouna Lehlimi, Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University,Division of Neonatology, Department of Pediatrics, Abderrahim Harouchi Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco

Division of Neonatology, Department of Pediatrics, Abderrahim Harouchi Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco.

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