Clinical delineation and proposed algorithm for the diagnosis of del22q11.2 syndrome

Authors

  • Luis Alberto Méndez Rosado Centro Nacional de Genética Médica. La Habana. https://orcid.org/0000-0002-4401-0054
  • Yara Silva Gonzalez Centro Nacional de Genética Médica. La Habana. https://orcid.org/0000-0003-1285-0830
  • Anduriña Barrios Martinez Centro Nacional de Genética Médica. La Habana. https://orcid.org/0000-0002-5957-3538
  • Svetlana Vorsanova Laboratory of Molecular Cytogenetics of Neuropsychiatric Diseases, Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University. Moscow, Russia. Yurov’s Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center. Moscow, Russia. https://orcid.org/0000-0002-4869-5361
  • Ivan Iourov Laboratory of Molecular Cytogenetics of Neuropsychiatric Diseases, Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University. Moscow, Russia. Yurov’s Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center. Moscow, Russia. https://orcid.org/0000-0002-4134-8367
  • Alina García García Hospital Pediátrico Universitario “Willian Soler”. La Habana. https://orcid.org/0000-0002-2642-3090

Keywords:

del22q11.2, congenital heart disease, craniofacial dysmorphism, hypocalcemia, thymus hypoplasia, Di George syndrome

Abstract

Introduction: Deletion in the 22q11.2 region is considered the most frequent microdeletion in humans, characterized by a great diversity of clinical features, which makes its diagnosis difficult.

Objective: to describe the phenotypic characteristics of patients with a molecular diagnosis of 22q11.2 deletion and to suggest a working algorithm for a more precise clinical delineation of this syndrome.

Material and Methods: A descriptive study of the clinical characteristics of patients with molecular diagnosis of the deletion from the laboratories of the National Center of Medical Genetics in Havana (21 patients) and the Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center in Moscow (5 cases) was carried out. Two molecular methods were used for deletion detection: fluorescence in situ hybridization and microarrays. The results are compared with international reports of studies with large numbers of patients analyzed. Information on all supplementary analyses performed on patients to arrive at this diagnosis is collected.

Results: The main phenotypic characteristics found in patients diagnosed with 22q11.2 deletion were craniofacial congenital defects, congenital heart disease, thymus hypoplasia and cellular immunodeficiency. Their incidence is in overall agreement with that reported in the international literature.

Conclusions: According to the clinical characteristics of these patients, a working algorithm was created to achieve a better clinical delineation of the disease in a syndrome characterized by its great phenotypic variability.

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Published

2024-06-24

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1.
Méndez Rosado LA, Silva Gonzalez Y, Barrios Martinez A, Vorsanova S, Iourov I, García García A. Clinical delineation and proposed algorithm for the diagnosis of del22q11.2 syndrome. Rev haban cienc méd [Internet]. 2024 Jun. 24 [cited 2025 Jul. 12];23:e5540. Available from: https://revhabanera.sld.cu/index.php/rhab/article/view/5540

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