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Question

The following are inherited as autosomal recessive disorders except

The correct answer is
Achondroplasia

The question involves identifying a genetic disorder that is not inherited in an autosomal recessive manner. Let's explore the inheritance patterns for each option presented:

  1. Phenylketonuria (PKU): This is an autosomal recessive disorder. It occurs due to mutations in the gene responsible for breaking down the amino acid phenylalanine. Individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.
  2. Galactosaemia: This is also an autosomal recessive disorder. It results from mutations in genes involved in the conversion of galactose to glucose. Affected individuals inherit two faulty genes.
  3. Achondroplasia: This condition is not inherited as an autosomal recessive disorder. Instead, it is an autosomal dominant disorder, meaning that only one copy of the altered gene is enough to cause the condition. Achondroplasia is a common cause of dwarfism and involves mutations in the FGFR3 gene.
  4. Wilson's disease: This is an autosomal recessive disorder that affects copper metabolism. It requires two defective copies of the responsible gene for the disease to manifest.

The correct answer is Achondroplasia, as it is inherited in an autosomal dominant manner, not autosomal recessive like the other conditions listed.

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Important Questions from Congenital Disorders

  1. To prevent recurrence, expectant mothers with a previous fetus with neural tube defect should receive folic acid daily at the dose of :
  2. Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies: 

    1. It is carried out on maternal blood. 

    2. It is done before 10 weeks gestation. 

    3. It has a negative predictive value of about 98%. 

    4. Invasive testing is needed for confirmation of a positive test. 

    Which of the statements given above are correct?

  3. The risk of Down syndrome is 100% in the offspring, if:
  4. Which of the following are examples of genomic imprinting? 

    1. Angelman syndrome 

    2. Williams syndrome 

    3. Prader-Willi syndrome 

    4. DiGeorge syndrome 

    Select the correct answer using the code given below:

  5. To reduce the risk of neural tube defects in the baby, which of the following are recommended?
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