Which diagnostic test confirms Turner’s syndrome?

Which diagnostic test confirms Turner’s syndrome?

• A. Karyotyping
• B. Bone age X-ray
• C. Urine culture
• D. Fasting glucose

Answer: (A)

Turner syndrome is defined by an abnormal sex chromosome complement, most commonly a single X chromosome (45,X) or mosaicism involving X. The definitive confirmation comes from karyotype analysis, which examines the number and structure of chromosomes in cells. A karyotype from blood lymphocytes will reveal 45,X or mosaic patterns such as 45,X/46,XX, making the diagnosis explicit. Prenatally, karyotyping can be done on fetal cells from chorionic villus sampling or amniocentesis to confirm the condition. Bone age X-ray can suggest growth delay, which is common in Turner, but it does not establish the chromosomal basis of the condition. Urine culture tests for infection, and fasting glucose assesses metabolic status; neither confirms Turner syndrome.

Turner syndrome is defined by an abnormal sex chromosome complement, most commonly a single X chromosome (45,X) or mosaicism involving X. The definitive confirmation comes from karyotype analysis, which examines the number and structure of chromosomes in cells. A karyotype from blood lymphocytes will reveal 45,X or mosaic patterns such as 45,X/46,XX, making the diagnosis explicit. Prenatally, karyotyping can be done on fetal cells from chorionic villus sampling or amniocentesis to confirm the condition.

Bone age X-ray can suggest growth delay, which is common in Turner, but it does not establish the chromosomal basis of the condition. Urine culture tests for infection, and fasting glucose assesses metabolic status; neither confirms Turner syndrome.