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Multiple Choice

Which syndrome is caused by paternal inheritance of chromosome 15 and features intellectual disability, behavioral problems, hyperphagia, and obesity?

Genomic imprinting on chromosome 15 explains why loss of paternal gene expression produces Prader-Willi syndrome. In this condition, the genes in the 15q11-q13 region that are normally expressed from the paternal chromosome are not expressed because the paternal copy is deleted or the individual has maternal uniparental disomy. Since the maternal copy in this region is usually silenced, there is effectively no active expression of those genes. The clinical picture includes low muscle tone in infancy, followed by an insatiable appetite leading to obesity, along with intellectual disability and behavioral challenges, and often short stature and underdeveloped gonads. This pattern distinguishes it from Angelman syndrome, which arises from loss of maternal gene expression in the same region and presents with a happy demeanor, ataxia, and seizures, Rett syndrome which is X-linked and involves regression in girls, and Williams syndrome due to a deletion elsewhere (7q11.23) with its own distinctive features.

Genomic imprinting on chromosome 15 explains why loss of paternal gene expression produces Prader-Willi syndrome. In this condition, the genes in the 15q11-q13 region that are normally expressed from the paternal chromosome are not expressed because the paternal copy is deleted or the individual has maternal uniparental disomy. Since the maternal copy in this region is usually silenced, there is effectively no active expression of those genes. The clinical picture includes low muscle tone in infancy, followed by an insatiable appetite leading to obesity, along with intellectual disability and behavioral challenges, and often short stature and underdeveloped gonads. This pattern distinguishes it from Angelman syndrome, which arises from loss of maternal gene expression in the same region and presents with a happy demeanor, ataxia, and seizures, Rett syndrome which is X-linked and involves regression in girls, and Williams syndrome due to a deletion elsewhere (7q11.23) with its own distinctive features.