A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay

A study on the genetic pathogenic factors of Global Developmental Delay  titled “A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay” was published in Journal Genes by Morocco ANOUAL CENTRE Laboratory.

The patient, a two-year-old Moroccan child born to a non-consanguineous marriage, is the youngest of four siblings from the same parents. Clinically, the patient displayed global psychomotor and stature ponderal retardation, alongside microcephaly, facial dysmorphia, and pharmaco-sensitive epilepsy.

WES-CNV analysis identified a heterozygous de novo microdeletion of approximately 8.2 Mb in 21q21.3–q22.13, encompassing 124 clinically relevant genes. Integrated analysis confirmed the pathogenicity of the deletion and highlighted genotype–phenotype correlations, particularly implicating dosage-sensitive genes such as SON and RUNX1. This case underlines the clinical utility of combining WES, CNV analysis, and phenotype-based bioinformatic tools for diagnosing complex microdeletion syndromes, contributes to understanding genotype–phenotype relationships in 21q21.3–q22.13 deletions, and supports improved clinical interpretation and patient management.

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