Deletion of chromosome 11 leads to –
**Core Concept**
Deletion of chromosome 11p15.5, a region critical for growth and development, leads to a rare genetic disorder characterized by overgrowth and increased risk of tumors. This region harbors the imprinted genes IGF2 and H19, which play crucial roles in regulating cell growth and differentiation.
**Why the Correct Answer is Right**
The deletion of chromosome 11p15.5 disrupts the normal expression of IGF2 and H19, leading to uncontrolled cell growth and tumor formation. This deletion is associated with Beckwith-Wiedemann syndrome (BWS), a congenital disorder characterized by overgrowth, macrosomia, and an increased risk of childhood tumors, particularly Wilms tumor and hepatoblastoma. The loss of imprinting (LOI) of IGF2 and H19 genes is a hallmark of BWS.
**Why Each Wrong Option is Incorrect**
**Option A:** Deletion of chromosome 11p13 is associated with Wilms tumor, not BWS. This region harbors the WT1 gene, which is mutated in Wilms tumor.
**Option B:** Deletion of chromosome 11q23 is associated with acute monocytic leukemia, not BWS. This region is involved in the translocation t(11;22) in Ewing's sarcoma.
**Option C:** Deletion of chromosome 11q14 is associated with neuroblastoma, not BWS. This region harbors the MYCN gene, which is amplified in neuroblastoma.
**Clinical Pearl / High-Yield Fact**
Beckwith-Wiedemann syndrome is a rare genetic disorder that highlights the importance of genomic imprinting in regulating growth and development. The loss of imprinting of IGF2 and H19 genes is a key feature of BWS, underscoring the need for careful genetic evaluation in patients with overgrowth or increased risk of tumors.
**Correct Answer: D. Deletion of chromosome 11p15.5 leads to Beckwith-Wiedemann syndrome.**