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Pediatrics General 33aaa445

Prader willi syndrome, chromosomal defect?

A
Chromosome 15
B
Chromosome 5
C
Chromosome 10
D
Chromosome 21
High-Yield Explanation
Ans. is 'a' i.e., Chromosome 15 Prader-Willi syndrome is a complex genetic condition that affects many pas of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, paicularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. o Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; sho stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Pubey is delayed or incomplete, and most affected individuals are unable to have children (infeile).

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