Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Area of Science:

• Human Genetics
• Cytogenetics
• Medical Diagnostics

Background:

• Chromosomal abnormalities significantly contribute to human morbidity and mortality.
• These alterations are implicated in miscarriages, developmental delays, and congenital malformations.

Purpose of the Study:

• To determine the prevalence of various chromosomal abnormalities in North Indian patients.
• To analyze the distribution of different types of chromosomal aberrations in the studied population.

Main Methods:

• Cytogenetic analysis was performed on lymphocyte cultures from 859 patients (newborn to 37 years).
• Patients presented with clinical disorders including Down syndrome, Turner syndrome, and ambiguous sex.

Main Results:

• A high prevalence of chromosomal abnormalities (43.1%) was observed in the referred cases.
• Down syndrome was the most frequent autosomal abnormality (81.4%), and Turner syndrome was the most common sex chromosomal abnormality (13.7%).
• Numerical abnormalities constituted 41.0% of cases, while structural abnormalities accounted for 2.0%.

Conclusions:

• Chromosomal analysis is an essential diagnostic tool for identifying genetic disorders.
• Accurate diagnosis through cytogenetic analysis facilitates appropriate genetic counseling for patients and families.