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Old 04-20-2012
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DNA Hypercalcemic small child?

A 17-month-old female patient admitted to the clinic for the investigation of severe hypercalcemia (4.02 mmol/L). The physician in the emergency room noticed that the girl is small for her age with prominent lips, blue eyes, periorbital fullness, stellate pattern of eyebrows and pointed ears. In physical examination, he found that the patient is hypertensive and he heard some bruit on left supraclavicular and abdominal areas. If the physician was suspicious to a genetic abnormality in this patient, which gene is probably is involved in this presentation?

A) ELN on chromosome 7
B) NSD1 on chromosome 5
C) APKD1 on chromosome 16
D) WT-1 on chromosome 11
E) p53 on chromosome 17
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It's probably A or B but I've never heard of those genes or syndromes! ...
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Old 04-20-2012
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I think its a description of a Williams disorder.

But what chromosome... I am not sure - D)?
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it's williams syndrome - Elastin i.e ELN gene. elfin fascial appearance.
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Default A

A) - Williams syndrome
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Thumbs Up Correct Answer is A

This is Williams Syndrome.
Chromosome 7
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Good questions on genetics. I haven't even heard some of these syndromes.

Looked up Williams syndrome and came across this website which had a youtube video and a nice picture explaining all the symptoms-

There is a youtube video and a really nice picture if anyone wants to view it -





Source: http://geneticsf.labanca.net/?p=771
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Quote:
Originally Posted by Hope2Pass View Post
Good questions on genetics. I haven't even heard some of these syndromes.

Looked up Williams syndrome and came across this website which had a youtube video and a nice picture explaining all the symptoms-

There is a youtube video and a really nice picture if anyone wants to view it -





Source: http://geneticsf.labanca.net/?p=771
Check out "how's your news" MTV show...
FA has a couple lines on this syndrome, but it is insufficient of course.
-Extreme friendliness with strangers, high developed social skills, some mild mental retardation, elfine faces, and heart problems.
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Quote:
Originally Posted by DocSikorski View Post
Check out "how's your news" MTV show...
FA has a couple lines on this syndrome, but it is insufficient of course.
-Extreme friendliness with strangers, high developed social skills, some mild mental retardation, elfine faces, and heart problems.
hah .. Just looked up that show and there is one guy named Jeremy on it who has it. That's interesting. Anyway, after going over this thread, now I won't forget this syndrome and its features lol
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One more addition: Williams Syndrome is an autosomal dominant condition.
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