02-05-2011, 04:36 AM
A 16-year-old boy is seen for the first time by a physician, who notes the patient was born with a cleft palate, microcephaly, and midface hypoplasia. A heart murmur was detected at 2 months of age. The patient had been treated many times for recurrent otitis media but had not had regular medical care. The physician noted a long face that appeared hypotonic with narrow palpebral fissures, puffy eyelids, a squared nasal root, and a narrow alar base with thin alae nasi. The mother demonstrated a similar but less severe constellation of features. Because a diagnosis was missing from the patient's chart, the physician ordered fluorescent in situ hybridization (FISH) analysis for both the mother and the patient. An abnormality is most likely to be found in what chromosome location?
A. 13
B. 7q11
C. 15q11-12
D. 17p11.2
E. 22q11.2
F. 3p
A. 13
B. 7q11
C. 15q11-12
D. 17p11.2
E. 22q11.2
F. 3p