Karyotyping is useful in diagnosis of –
**Core Concept**
Karyotyping is a genetic test that involves examining the chromosomes in an individual's cells to identify any abnormalities in the number or structure of the chromosomes. This technique is essential in the diagnosis of various genetic disorders.
**Why the Correct Answer is Right**
Karyotyping is particularly useful in the diagnosis of chromosomal abnormalities, such as aneuploidy (having an abnormal number of chromosomes), translocations (exchange of genetic material between non-homologous chromosomes), deletions (loss of genetic material), duplications (gain of genetic material), and other structural anomalies. These abnormalities can lead to various genetic disorders, including Down syndrome, Turner syndrome, and Klinefelter syndrome. By analyzing the karyotype, healthcare professionals can identify the specific chromosomal abnormality and provide a diagnosis.
**Why Each Wrong Option is Incorrect**
**Option A:** Autosomal recessive disorders are typically diagnosed through biochemical tests, such as genetic testing for specific enzyme deficiencies, rather than karyotyping. While some autosomal recessive disorders may involve chromosomal abnormalities, karyotyping is not the primary diagnostic tool.
**Option B:** X-linked recessive disorders are usually diagnosed through genetic testing for specific mutations in the X chromosome. While karyotyping may reveal sex chromosome abnormalities, it is not the primary diagnostic method for X-linked recessive disorders.
**Option D:** Biochemical abnormalities are often diagnosed through biochemical tests, such as enzyme assays or metabolic screening tests, rather than karyotyping. While some biochemical abnormalities may be associated with chromosomal abnormalities, karyotyping is not the primary diagnostic tool.
**Clinical Pearl / High-Yield Fact**
When interpreting karyotype results, it is essential to consider the patient's clinical presentation, family history, and other diagnostic test results to accurately diagnose chromosomal abnormalities.
**β Correct Answer: C. Chromosomal abnormalities**