**Core Concept**
Fanconi's anemia is a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and an increased risk of malignancies. It is a DNA repair disorder that affects the body's ability to repair DNA damage, leading to progressive bone marrow failure and cancer susceptibility.
**Why the Correct Answer is Right**
Fanconi's anemia is caused by mutations in the FANCA, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCI, FANCJ (BRIP1), FANCL, FANCM, FANCN (PALB2), FANCO (RAD51C), FANCP (SLX4), or FANCQ genes, which are involved in the repair of interstrand crosslinks in DNA. The disease leads to progressive bone marrow failure due to the accumulation of DNA damage, resulting in megaloblastic anemia, leukopenia, and thrombocytopenia.
**Why Each Wrong Option is Incorrect**
* **Option A:** Incorrect because Fanconi's anemia is not caused by mutations in the TP53 gene.
* **Option B:** Incorrect because Fanconi's anemia is not associated with an increased risk of thyroid cancer.
* **Option C:** Incorrect because Fanconi's anemia is not caused by mutations in the BRCA1 gene.
**Clinical Pearl / High-Yield Fact**
Fanconi's anemia is often associated with congenital abnormalities, particularly of the skeletal, renal, and cardiac systems. It is essential to recognize the clinical features of Fanconi's anemia to provide early diagnosis and management.
**Correct Answer: D.**
Free Medical MCQs · NEET PG · USMLE · AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.