Asked in Premeth past paper pool — BiologyModerate

The genetic disorder that can NOT be diagnosed by using a chromosomal karyotype is

Correct answer: B. Phenylketonuria (PKU)

  • A. Down syndrome (mongolism)
  • B. Phenylketonuria (PKU)
  • C. Turner's syndrome
  • D. Klinefelter's syndrome

Explanation

Phenylketonuria (PKU) is a genetic disorder that results from a mutation in a specific gene responsible for metabolizing the amino acid phenylalanine. This condition is not due to a chromosomal abnormality, so it cannot be diagnosed using a chromosomal karyotype, which is used to detect changes in chromosome number or structure. In contrast, Down syndrome (mongolism), Turner's syndrome, and Klinefelter's syndrome are all disorders that involve abnormalities in chromosome number or structure, making them detectable through karyotyping.

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