MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability
Mahrous, R., Gabal, M., Eid, O., Ashaat, E., Aglan, M., Shoman, A., Mohamed, A. (2024). MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability. EKB Journal Management System, 13(2), 1-7. doi: 10.21608/mxe.2025.314920.1029
Rana Mahrous; Mohamed Gabal; Ola M. Eid; Engy Ashaat; Mona Aglan; Ahmed Shoman; Amal Mohamed. "MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability". EKB Journal Management System, 13, 2, 2024, 1-7. doi: 10.21608/mxe.2025.314920.1029
Mahrous, R., Gabal, M., Eid, O., Ashaat, E., Aglan, M., Shoman, A., Mohamed, A. (2024). 'MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability', EKB Journal Management System, 13(2), pp. 1-7. doi: 10.21608/mxe.2025.314920.1029
Mahrous, R., Gabal, M., Eid, O., Ashaat, E., Aglan, M., Shoman, A., Mohamed, A. MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability. EKB Journal Management System, 2024; 13(2): 1-7. doi: 10.21608/mxe.2025.314920.1029

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

Middle East Journal of Medical Genetics
Volume 13, Issue 2, July 2024, Pages 1-7    PDF (479.03 K)
Document Type: Original Article
DOI: 10.21608/mxe.2025.314920.1029
Authors
Rana Mahrous1; Mohamed Gabal2; Ola M. Eid* 1; Engy Ashaat1; Mona Aglan3; Ahmed Shoman2; Amal Mohamed1
1National Research Centre, Egypt
2Faculty of Medicine, Ain Shams University
3National 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.
Keywords
Congenital abnormalities; microdeletion; microduplication
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