WAGR syndrome is caused by defect in which chromosome:
Wilms tumor is linked to the WT1 gene, right? And I recall that aniridia is caused by a mutation in the PAX6 gene. Both of these genes are located on chromosome 11. So, if there's a deletion in that region, it could lead to WAGR syndrome. Let me confirm: WAGR is a contiguous gene deletion syndrome. The deletion typically spans from the PAX6 gene to the WT1 gene. That would place the defect on chromosome 11.
Now, the options aren't given, but the correct answer must be 11. So if the options included 11, that's the correct one. Let me think about other chromosomal deletions. For example, Cri-du-chat is 5p, Down syndrome is trisomy 21, but those aren't related here. So the core concept here is that WAGR is due to a deletion on chromosome 11, specifically in the region 11p13.
The wrong options might include other chromosomes like 13, 18, or 21. Each of those is associated with different syndromes. For example, 13q deletion causes deletional trisomy 13, and 18 is involved in Edward's syndrome. So if any of those were options, they would be incorrect.
The clinical pearl here is remembering that WAGR is a contiguous gene deletion syndrome on chromosome 11p13, which includes both PAX6 and WT1 genes. That's a high-yield point for exams. So the correct answer is chromosome 11.
**Core Concept**
WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation) is a contiguous gene deletion syndrome involving **chromosome 11p13**. The deletion spans the **PAX6** gene (causing aniridia) and the **WT1** gene (linked to Wilms tumor), highlighting chromosomal abnormalities in developmental gene clusters.
**Why the Correct Answer is Right**
The deletion in WAGR syndrome occurs at **chromosome 11p13**, removing multiple genes critical for embryonic development. **PAX6** (eye development) and **WT1** (kidney and gonadal development) are key genes in this region. Loss of these genes leads to the syndrome’s hallmark features: aniridia from PAX6 deficiency and Wilms tumor risk from WT1 dysfunction. This chromosomal defect is inherited in an autosomal dominant pattern but often arises de novo.
**Why Each Wrong Option is Incorrect**
**Option A:** Chromosome 13 is associated with deletional trisomy 13 (Patau syndrome), not WAGR.
**Option B:** Chromosome 18 is linked to Edwards syndrome (trisomy 18), characterized by severe developmental abnormalities.
**Option C:** Chrom