Question of the day #3

An infant born at 37 weeks' gestation is referred to you for evaluation of severe hypotonia. He was born to a 19-year-old primigravida following a pregnancy that was complicated by breech presentation. No concern about fetal movement was voiced. Cesarean delivery was required because of failure to progress. At birth, the infant was floppy but had no cardiopulmonary distress. During an attempt to feed from a bottle, the formula rolled out the side of infant's mouth, and he failed to swallow. On physical examination, you note severe hypotonia, silver blond hair, narrow bifrontal diameter, almond-shaped palpebral fissures, thin upper lip, small hands and feet, micropenis, and bilateral cryptorchidism. No omphalocele, high forehead, downslanting palpebral fissues, flat facies or occiput, single transverse palmer crease, contractures, seizures, or skin lesions are present, although the skin is fair and the right hip is dislocated. Both parents are healthy and participate actively in a variety of athletic activities. Of the following, the evaluation that is MOST likely to determine the diagnosis in this infant is:

MRI

FISH

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