Microdeletion is seen in?
**Core Concept:** Microdeletions are genomic abnormalities characterized by the partial deletion of a chromosome segment. They can lead to developmental disorders, congenital anomalies, and/or mental retardation.
**Why the Correct Answer is Right:** Chromosome 7q11.23 is a region of interest because it contains the Williams-Beuren syndrome critical region (WBSCR), which spans around 1.5-2 Mb. The deletion of this region results in the clinical phenotype of Williams-Beuren syndrome (WBS).
**Why Each Wrong Option is Incorrect:**
A. Chromosome 22q11.2 deletion syndrome (Cri-du-chat syndrome) is caused by the deletion of a different region (22q11.2) and has a distinct clinical picture.
B. Down syndrome (trisomy 21) is caused by an extra copy of chromosome 21, not a deletion.
C. Turner syndrome is caused by a partial or complete absence of one X chromosome, not a deletion of a specific region.
D. Prader-Willi syndrome is caused by a deletion on chromosome 15q11-q13, not the same as option C.
**Clinical Pearl / High-Yield Fact:** Microdeletions can be detected using advanced molecular techniques like Fluorescent In-Situ Hybridization (FISH), MLPA (Multiplex Ligation-dependent Probe Amplification), or array-CGH (Array Comparative Genomic Hybridization). These tests help to identify the specific deletion and assist in accurate diagnosis and prognosis.
**Correct Answer:** D. Prader-Willi syndrome is caused by a deletion on chromosome 15q11-q13, not the same as option C (Turner syndrome). However, option D is incorrect as well; the correct answer is **option A** for Williams-Beuren syndrome (caused by a deletion on chromosome 7q11.23).