A 4-Year-Old Boy Is Brought to the Physician for Evaluation

A 4-year-old boy is brought to the physician for evaluation of binge-eating.  He complains constantly of hunger and has temper tantrums when his parents refuse to give him additional snacks.  Past medical history is significant for hospitalization during the first month of life for nasogastric feeding due to weak suck and hypotonia.  The patient is status post orchiopexy for bilateral cryptorchidism at age 1 year.  He also receives physical and speech therapies twice a week.  His height is <5th percentile and weight is >99th percentile.  On examination, he has a narrow forehead, a down-turned mouth, almond-shaped eyes, and small hands and feet.  He has low muscle tone and a microphallus.  Which of the following is the most likely cause of this patient's condition?

A) Disregulation of imprinted gene expression in chromosome 11p15
B) Loss of the maternal copy of 15q11-q13
C) Loss of the paternal copy of 15q11-q13
D) Nondisjunction resulting in an extra X chromosome
E) X-linked mutation of the fragile X mental retardation 1 gene
F) X-linked mutation of the hypoxanthine-guanine phosphoribosyl transferase gene

Correct Answer:

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