Klinefelter syndrome is diagnosed by:
USG abdomen
Echocardiography
Triple test
Karyotyping
Klinefelter's syndrom (XXY) can be detected by karyotyping Karyotyping Study of chromosome Best technique for Monosomy/Trisomy But can be only done during Metaphase Sample used: Blood, Bone marrow, Amniotic fluid, Placental tissue Fixative : Carnoy's fixative (Methanol and Glacial Acetic acid in ratio 3:1) Most common stain: Geimsa/G-banding Limitations Can't be done in any phase of cell cycle Can't detect amplifications, microdeletions and complex translocations Low resolution i.e. subchromosomal alterations can't be detected
Techniques in molecular biology