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Published on: February 21, 2015
Cytogenetic analysis of children with suspected genetic disorder
U Shrestha1, S Bhattacharya, N K Bhatta
1Department of Human Anatomy, Universal college of Health Science, Bhairahawa, Nepal. uttam_bp30@hotmail.com
Insights
Cytogenetic analysis identified chromosomal disorders in 33.34% of children with suspected genetic conditions. Down syndrome was the most frequent abnormality, highlighting the importance of genetic testing for early diagnosis.
Area of Science:
- Pediatric Genetics
- Human Cytogenetics
- Clinical Diagnostics
Background:
- Genetic disorders present with a range of symptoms including dysmorphic features, developmental delays, and congenital malformations.
- Accurate diagnosis is crucial for appropriate management and genetic counseling.
Purpose of the Study:
- To perform chromosomal analysis in children with suspected genetic disorders.
- To determine the prevalence and types of chromosomal abnormalities in this pediatric cohort.
Main Methods:
- Peripheral blood lymphocyte cultures were established from 30 children (aged 0-15 years) presenting with clinical suspicion of genetic disorders.
- Standard G-banding technique was employed for cytogenetic analysis.
Main Results:
- Chromosomal abnormalities were detected in 33.34% (10 out of 30) of the children studied.
- The most prevalent chromosomal disorder identified was Down syndrome (26.67%), followed by Turner syndrome (6.67%).
Conclusions:
- Cytogenetic analysis is vital for diagnosing chromosomal aberrations in children with developmental and physical anomalies.
- Identifying chromosomal disorders aids in understanding the etiology of congenital malformations and guides further medical investigations.
Objectives:
To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder.
Materials And Methods:
Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformations and ambiguous genitalia with age between 0-15 years. Cytogenetic analysis was carried using standard peripheral blood lymphocyte culture method and G-banding technique in Cytogenetic laboratory of Department of Anatomy, B.P. Koirala Institute of Health Sciences.
Results:
Chromosomal disorders were identified in 33.34% (10) of children. The most common chromosomal abnormality was Down syndrome (26.67%) followed by Turner syndrome (6.67%).
Conclusion:
The cytogenetic analysis of children with suspected chromosomal aberration is important to uncover the contribution of chromosomal disorder in genesis of dysmorphisms, mental retardation, short stature, sexual ambiguity and congenital malformation in children and prevent further potentially unpleasant investigation being undertaken.
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