Background: Developmental delay (DD) could be syndromic or non-syndromic, and collectively it affects 10% of all children. There are numerous causes of DD that could be genetical, hormonal and/or neurological. The frequency of defected chromosomal anomalies in patients with DD is variable and estimates between 9% and 36%. However, the accurate diagnosis needs further tests based on the information gather from parents and the findings on physical examination.
Objectives: We aim to evaluate the pattern of chromosomal abnormalities in children with DD, in order to detect the treatable cases, and offering an appropriate genetic counseling.
Patients & Methods: This is a cohort study comprised 40 children with developmental delay and associated congenital anomalies were referred from the outpatient clinic of the pediatric department, El Sayed Galal Hospital, to the Human Cytogenetics department, National Research Centre (NRC), Cairo, Egypt. During the period from December 2015 till June 2018.
The patients were subjected to the present study. Peripheral blood samples were collected, cultured, harvested, metaphase spread and then chromosomes were stained for Gbanding using Trypsin-Giemsa technique. Chromosomes were analyzed, metaphase spreads were captured, and karyotyping has been done.
Results: 2 cases out of the 40 affected children have structural chromosomal rearrangements, and 3 out of them carried numerical chromosomal abberations .
Conclusion: Chromosomal studies are valuable in detecting such cases with DD. Prenatal genetic diagnosis is of clinical importance to prevent and offer genetic counseling. Additionally, small proportion of apparently normal population could carry some types of structural chromosomal anomalies.