Which of the following is not a characteristic of Fanconi’s anemia ?
**Core Concept**
Fanconi's anemia is a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and a predisposition to malignancies. It is an autosomal recessive disorder caused by mutations in the FANCA, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCI, FANCL, FANCM, FANCN (PALB2), FANCO (RAD51C), FANCP (SLX4), FANCQ (ERCC4), FANCR (XRCC2), FANCS (BRCA1), or FANCT genes, which are involved in the repair of interstrand DNA crosslinks.
**Why the Correct Answer is Right**
The characteristics of Fanconi's anemia include congenital abnormalities such as short stature, microcephaly, and radial aplasia, bone marrow failure leading to anemia, leukopenia, and thrombocytopenia, and an increased risk of malignancies, particularly acute myeloid leukemia and squamous cell carcinomas. The key feature that distinguishes Fanconi's anemia from other bone marrow failure syndromes is the presence of congenital abnormalities.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as Fanconi's anemia is indeed characterized by congenital abnormalities, which are a hallmark of the disorder.
**Option B:** This option is incorrect as Fanconi's anemia is associated with bone marrow failure, which is a key feature of the disorder.
**Option C:** This option is incorrect as Fanconi's anemia is indeed associated with an increased risk of malignancies, particularly acute myeloid leukemia and squamous cell carcinomas.
**Clinical Pearl / High-Yield Fact**
It is essential to remember that Fanconi's anemia is a rare genetic disorder with a wide range of clinical manifestations, including congenital abnormalities, bone marrow failure, and an increased risk of malignancies. A high index of suspicion is required for diagnosis, particularly in individuals with a family history of the disorder.
**Correct Answer: D.**