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Old 08-10-2012
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DNA Chromosomal Syndrome

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) 4p
b) 7q11
c) 15q11-12
d) 17p11.2
e) 22q11.2
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  #2  
Old 08-10-2012
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E looks like digeorge
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Old 08-10-2012
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Sounds like DiGeorge...22q11 microdeletion
Option Ee
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Old 08-10-2012
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The symptoms described is consistent with velocardiofacial syndrome, part of the 22q11 syndrome (DiGeorge, Sedlackova, and velocardiofacial syndromes) caused by a three-megabase microdeletion at chromosome 22q11
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Old 08-14-2012
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Default correct answer :)

The answer is e) 22q11.2

The symptoms described are consistent with velocardiofacial syndrome, part of the 22q11 syndrome (DiGeorge, Sedlackova, and velocardiofacial syndromes) caused by a three-megabase microdeletion at chromosome 22q11.
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Old 08-16-2012
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Let's go through this:

a) 4p
Wolf–Hirschhorn syndrome
microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags, growth and mental retardation, muscle hypotonia, seizures, and congenital heart defects

b) 7q11
Williams syndrome
"elfin" facial appearance, low nasal bridge, cheerful demeanor and ease with strangers; developmental delay, strong language skills, cardiovascular problems: supravalvular aortic stenosis and transient hypercalcaemia.

c) 15q11-12
Angelman/Prader Willi syndrome

d) 17p11.2
Potocki–Lupsk syndrome

e) 22q11.2
DiGeorge syndrome
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