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Pathology Genetics 463a3992

Karyotyping is useful in diagnosis of?

A
Autosomal recessive disorders
B
X-linked recessive disorders
C
Chromosomal abnormalities
D
Biochemical abnormalities
High-Yield Explanation
Ref: Robbins Pathology, 9th ed. pg. 158Karyotyping 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 check 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.

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