An autosomal recessively inherited disease that has been mapped to chromosome 11 is called?

DSSSB - 29 August 2019 (Shift-1)

Pathology & Genetics (E5)

Medium

Appeared in: DSSSB - 29 August 2019 (Shift-1)

Explanation

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
The gene responsible for A-T is the ATM (Ataxia-Telangiectasia Mutated) gene.
The ATM gene is located on the long (q) arm of chromosome 11, specifically at position 11q22-q23.
Therefore, Ataxia-telangiectasia is the only condition listed that matches both criteria of being autosomal recessive and linked to chromosome 11.

Option A: Neurofibromatosis (both Type 1 and Type 2) is an autosomal dominant disorder, not recessive. The genes are located on chromosome 17 (NF1) and chromosome 22 (NF2), not chromosome 11.
Option B: Von Hippel-Lindau disease is an autosomal dominant disorder, not recessive. The responsible gene is located on chromosome 3, not chromosome 11.
Option D: Tuberous sclerosis is an autosomal dominant disorder, not recessive. It is caused by mutations in genes on either chromosome 9 (TSC1) or chromosome 16 (TSC2), not chromosome 11.

Clinical Relevance

Nursing practice connection: Knowing Genetic basis of neurocutaneous syndromes helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Understanding the genetic basis of diseases is crucial for nurses in providing patient education, and facilitating genetic counseling for families.
For patients with Ataxia-telangiectasia, nurses play a key role in infection prevention due to immunodeficiency, monitoring for signs of malignancy, and providing supportive care for progressive neurological decline.
What if? If a child presented with café-au-lait spots, axillary freckling, and Lisch nodules in the iris, the diagnosis would more likely be Neurofibromatosis Type 1, an autosomal dominant condition linked to chromosome 17.

How to Approach the Question

First, identify the key criteria in the question stem: 'autosomal recessively inherited' and 'mapped to chromosome 11'.
Next, systematically evaluate each option against these two specific criteria.
Recall or look up the inheritance pattern for Neurofibromatosis. It's autosomal dominant. Eliminate this option.
Recall or look up the inheritance pattern for Von Hippel-Lindau disease. It's autosomal dominant. Eliminate this option.
Recall or look up the inheritance pattern and chromosome location for Ataxia-telangiectasia. It is autosomal recessive and linked to chromosome 11. This matches both criteria.
Finally, check Tuberous sclerosis. It is autosomal dominant. Eliminate this option. This confirms Ataxia-telangiectasia as the correct answer.

Concept Tested & Keywords

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E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 1285-1287

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 1478-1480