MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability

Document Type : Original Article

Authors

1 National Research Centre, Egypt

2 Faculty of Medicine, Ain Shams University

3 National Research Centre

Abstract

Background: Global developmental delay (GDD)/ Intellectual disability (ID) is characterized by significant limitations in intellectual functioning and adaptive behavior and is frequently associated with developmental delay and various congenital abnormalities. A wide range of environmental factors, in addition to genetic determinants, can affect brain development. Because of the significant clinical and genetic heterogeneity, studying intellectual disability is challenging.Aim of the study: was to detect chromosomal aberrations and/or copy number variants using various cytogenomics techniques in pediatric patients with intellectual disability.
Our study included 40 selected patients with GDD/ ID with or without multiple congenital anomalies (MCA). Different cytogenomics techniques conducted on our patients revealed normal karyotype in 39 patients and 1 female patient had abnormal karyotype. MLPA subtelomeric screening, and microdeletion/ microduplication screening was done for all patients. Subtelomeric abnormality was detected solely in the patient with abnormal karyotype and chromosomal micro-array was done for this patient only. Screening for microdeletion/ microduplication for all patients revealed 4 positive patients. We concluded that utilizing MLPA technique to screen for subtelomeric regions and microdeletion/microduplication syndromes, in combination with other cytogenomic methods, is beneficial for diagnosing patients with GDD/ID.

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