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Updated: Jul 27, 2026
Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
Published on: February 6, 2012
Cytogenetic analysis of children suspected of chromosomal abnormalities
R K Kenue1, A K Raj, P F Harris
1Department of Human & Clinical Anatomy, College of Medicine, Sultan Qaboos University, Sultanate of Oman.
Insights
Cytogenetic analysis revealed that 41% of Omani children had chromosomal abnormalities, with Down
Area of Science:
- Medical Genetics
- Pediatrics
- Cytogenetics
Background:
- Chromosomal abnormalities are a significant cause of congenital anomalies in children.
- Accurate diagnosis is crucial for management and genetic counseling.
Purpose of the Study:
- To evaluate the utility of cytogenetic analysis in Omani children with suspected chromosomal abnormalities.
- To determine the prevalence of specific chromosomal disorders in this population.
Main Methods:
- Karyotype analysis was performed on 122 Omani children.
- Children were selected based on clinical suspicion of chromosomal abnormalities.
Main Results:
- 50 out of 122 children (41%) exhibited abnormal karyotypes.
- Down's syndrome was the most common abnormality, found in 38 children (31%).
- 12 children (10%) presented with other chromosomal abnormalities.
Conclusions:
- Cytogenetic analysis is a valuable tool for investigating congenital anomalies of unknown origin in children.
- Karyotyping aids in confirming clinical diagnoses and facilitates genetic counseling for affected families.
Abstract:
Karyotypes were examined in 122 Omani children suspected of having chromosomal abnormalities. A total of 50 (41 per cent) had an abnormal karyotype: 38 (31 per cent) were Down's syndrome whilst a further 12 (10 per cent) had other types of chromosomal abnormalities. These findings suggest that cytogenetic analysis is useful in the investigations of children with congenital anomalies of unknown origin; to confirm clinical diagnosis in children with known cytogenetic syndromes and for genetic counselling.
