sandra
Forum Guru
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A 3-year-old obese boy is mildly mentally retarded, hypotonic, and had hypogonadism. The geneticist to whom he has been referred feels that he has Prader-Willi syndrome. This syndrome is caused by a micro deletion at 15q11-13. The diagnosis my be confirmed with the use of which of the following?
A. Classic chromosome staining
B. Fluorescence in-situ hybridization
C. Northern blotting
D. Polymerase chin reaction
E. Spectral karyotyping.
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| star1
Forum Guru
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Prader Willi syndrome is caused my three differenct mechanis..
1- microdeletion of chromosome 15 having gene ( for that diagnosis we used FISH to detect deletion )
2- a mutation of paternal chromosome 15
3- due to maternal disomy 15... ( we used PRC to diagnose the disomy)
so FISH is correct
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| star1
Forum Guru
Topics: 93
Posts: 826
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By not my sorry spell mistake 
by the way which test is used to detect mutation?
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| vanshita
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b?
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| young_doc
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Topics: 55
Posts: 732
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http://jmg.bmjjournals.com/cgi/content/full/37/6/...
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