By Karyotyping, it is possible to accurately demonstrate the number and structure of chromosomes. Of the 46 chromosomes in the human body two chromosomes determine the sex. In female both of these are X, and in a male it is X and Y.
Changes in the number and structure of chromosomes lead to physical and mental developments in the foetus. By karyotyping the foetus, these abnormalities can be detected and treatment is advised quite early in the course of pregnancy.
Men with hypogonadism, breast development and lack of facial hair.
Women with primary amenorrhoea, short stature, and streak gonads.
Women with polycystic ovaries
The test can be performed on a sample of blood, bone marrow, amniotic fluid, or tissue from the placenta, the organ that develops during pregnancy to feed a growing baby.
To test amniotic fluid, an amniocentesis is done.
A bone marrow specimen requires a bone marrow biopsy
The sample is placed into a special dish and allowed to grow in the laboratory. Cells are later taken from the growing sample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to provide a karyotype, which shows the arrangement of the chromosomes.
Certain abnormalities can be identified through the number or arrangement of the chromosomes. Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material.
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