Cytogenetic Studies in Indian Population suspected to have Klinefelter syndrome

Shailesh Pande, Vidya Salaskar, Anurita Pais, Gauri Pradhan, Chaitali Parab, Yamini Jadhav, Smita Patil, Sunmeet Matkar


Klinfelter syndrome is a genetic condition in which there is a presence of an extra copy of sex chromosome X. It is the most common sex chromosomal abnormality seen in males. The objective of our study was to determine the frequency of Klinfelter syndrome and its various cytogenetic types in cases with clinical suspicion of Klinfelter syndrome received at the Department of Cytogenetics, Metropolis Healthcare Limited, Mumbai, India. The period of our study was 2 years from January-2015 to December-2016. This retrospective study was performed on peripheral blood (2-3 ml) freshly collected in sodium heparin green-top vacutainer tube obtained from 421 patients with clinical suspicion of Klinfelter syndrome. All the samples used in our study were received from all over the India and the test requested was Chromosomal karyotyping (KT). The 72- hour old cultures were set and analysed by GTG–banding at 450-550 band level. Out of 421 samples referred, about 83 (19.71%) showed chromosomal abnormality ,68 (16.15%)cases showed extra copy of chromosome X. While, out of 421 cases17(4.03%) cases were detected with polymorphic variations.  Knowing the cytogenetic status is very important for the genetic Counselor and clinician for the management.


FISH, karyotype, Klinfelter syndrome, mosaic, translocations

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