WEST-E Special Education Practice Test

Which disorder results from a deletion of material in the seventh pair of chromosomes and often includes heart defects?

1. Phenylketonuria (PKU)

2. Williams Syndrome

3. Prader-Willi Syndrome

4. Autism Spectrum Disorder

The correct answer is: Williams Syndrome

Williams Syndrome is the correct answer as it is characterized by a deletion of genetic material on chromosome 7, specifically at the 7q11.23 region. This genetic mutation often leads to distinct physical features, cognitive challenges, and certain medical conditions, including cardiovascular issues such as heart defects. Individuals with Williams Syndrome may exhibit a range of developmental delays and have an outgoing, friendly personality, which includes strong language skills relative to their cognitive abilities. In contrast, Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency in the enzyme needed to process phenylalanine, which can lead to intellectual disabilities if not managed with a strict diet. Prader-Willi Syndrome is linked to the loss of function of genes in a specific region of chromosome 15 and results in features such as hypotonia, developmental delays, and hyperphagia (excessive eating). Autism Spectrum Disorder is a neurodevelopmental condition characterized by challenges in social interaction, communication, and a range of repetitive behaviors, but it does not stem from a specific chromosomal deletion or associated heart defects.