You are treating a child who presents with short stature, hypotonia, small hands and feet, obesity, and mild to moderate retardation. An analysis for genomic anomalies reveals a deletion in chromosome 15 and it is determined that this deletion came from the paternal genome. The symptoms and genetic data indicate the child is suffering from which of the following disorders?

Question

Quizplus · Accepted Answer

The symptoms and the paternal deletion on chromosome 15 are characteristic of Prader-Willi syndrome.  Prader-Willi syndrome (PWS) is characterized by a failure to thrive in the neonatal period accompanied by muscular hypotonia. PWS results from the loss of a group of paternally inherited genes due to a deletion of a region of chromosome 15. During early childhood PWS patients exhibit hyperphagia (excessive hunger and abnormally large intake of solid foods), obesity, hypogonadism, sleep apnea, behavior problems, and mild to moderate mental retardation. Additionally, PWS children have small hands and feet. In prepubertal males, the hypogonadism results in sparse body hair, poor development of skeletal muscles, and delay in epiphyseal closure, which results in long arms and legs.

You Are Treating a Child Who Presents with Short Stature