Karyotyping is useful in the diagnosis of?
Karyotyping is the study of chromosomes and is used in cytogenetics to study the chromosomal abnormalities. After arresting the cells in metaphase the chromosomes are examined to see for:
• Change in Number of chromosomes - To detect abnormalities in chromosome numbers such as aneuploidy (trisomy, tetrasomy), polyploidy.
• For detection of structural chromosomal anomalies such as translocation, deletions, inversion of chromosomes
Autosomal recessive disorders
Chromosomal abnormalities
X-linked recessive disorders
Biochemical abnormalities