Klinefelter syndrome is diagnosed by:
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
USG abdomen
Echocardiography
Triple test
Karyotyping
Techniques in molecular biology