Exam: Genetic Disorders in Paediatrics Complete Guide to Aneuploidies Down Syndrome Turner Syndrome Microdeletion and Imprinting Disorders
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8
A child with severe intellectual disability, seizures, ataxia, and inappropriate laughter is suspected of having Angelman syndrome. Which genetic abnormality is most likely?
A
Loss of maternal chromosome 15 gene expression
B
Loss of paternal chromosome 15 gene expression
C
Trisomy 18
D
Deletion of chromosome 5p

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