All Exams Test series for 1 year @ ₹349 only
Question

Which of the following conditions is an autosomal dominant disorder?

The correct answer is
Marfan syndrome

Understanding Autosomal Dominant Disorders

An autosomal dominant disorder is a genetic condition that occurs when only one copy of a mutated gene is present in a person's DNA. This mutation is located on one of the non-sex chromosomes (autosomes). Because only one copy is needed, the disorder often appears in every generation of an affected family.

Analysis of Conditions

Let's examine the inheritance pattern of each condition listed:

  • G-6PD deficiency: This is an X-linked recessive disorder. It primarily affects males and is passed down through genes on the X chromosome.
  • Sickle cell disease: This is an autosomal recessive disorder. It requires inheriting two copies of the mutated gene (one from each parent) to develop the disease.
  • Fanconi anaemia: This is also an autosomal recessive disorder, similar to sickle cell disease, requiring two copies of the altered gene.
  • Marfan syndrome: This condition is caused by a mutation in a single gene (FBN1) located on an autosome. Only one copy of the mutated gene is necessary for an individual to be affected, making it an autosomal dominant disorder. It often affects connective tissues, leading to issues with the heart, eyes, and skeleton.

Therefore, Marfan syndrome is the condition among the choices that follows an autosomal dominant inheritance pattern.

Was this answer helpful?

Important Questions from Shock

  1. All of the following are clinical features of hypovolaemic shock EXCEPT:
  2. Which one of the following is an example of Type-IV respiratory failure?
  3. Systemic inflammatory response syndrome (SIRS) can have the following features except:
  4. Diagnosis and grading of multi-organ failure is based on all the following criteria except:
  5. What is the earliest manifestation of hypovolaemia ?
Need Expert Advice?

Start Your Preparation with Prepp Mobile App

Download the app from Google Play & App Store
Download the app from Google Play & App Store
Prepp Mobile App