Deletion of the MATERNAL chromosome 15q11-q13 results in which syndrome?

• A Prader-Willi syndrome
• B Williams syndrome
• C Beckwith-Wiedemann syndrome
• D Angelman syndrome ✓

Explanation

Genomic imprinting: paternal 15q11-q13 genes (e.g., SNRPN) are expressed — loss of the paternal copy causes Prader-Willi syndrome. Maternal UBE3A is expressed in the brain — loss of the maternal copy causes Angelman syndrome (happy demeanor, seizures, absent speech, ataxia). Maternal 15q deletion = Angelman; paternal 15q deletion = Prader-Willi. Williams syndrome involves deletion of chromosome 7q11.23; Beckwith-Wiedemann involves chromosome 11p15 imprinting.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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