Chromosomal Abnormalities Among Patients in Balochistan, Pakistan A Cytogenetic Analysis

Abstract

Objective: To find out chromosomal abnormalities in patients who were referred for testing and evaluation of
genetic patterns, and implement genetic counseling.
Background: Chromosome disorders are of a wide variety; karyotyping is considered a main diagnostic test
for disorders like blood, congenital, and infertility. In this study, we performed karyotyping of patients in
Balochistan with various chromosomal defects who were referred for testing.
Methodology: This cross-sectional study was conducted in 3 different tertiary care hospitals. The peripheral
blood was collected from all patients undergoing or testing, then cultured for 72 hours at 37 °C. The analysis
of 20 metaphases per case was performed by Giemsa-trypsin banding using ISCN 2020 nomenclature.
Banding resolution ranged from 350 to 400 bands per haploid genome.
Results: Karyotyping was performed for 14 cases, of which 8 revealed chromosomal abnormalities. Trisomy
21, Robertsonian translocations, Jacobs syndrome (47, XYY), Turner syndrome (45, X), and structural
rearrangements. Mosaicism and hypodiploidy were seen in other cases, which have normal karyotypes (46,
XX or 46, XY).
Conclusion: The chromosomal analysis by karyotyping is a valuable technique for diagnostic purposes.
Balochistan is the largest province of Pakistan without of having a single genetic testing facility available.
There is a huge gap in the molecular diagnostics service that requires essential and required policy maker
attention toward this issue.