usmlesavvy
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A 9yr old boy is referred to a pediatric clinic by his school psychologist because of his poor academic performance,cognitive delay,and hyperkinetic behavior.Family history is significant for early dementia and ataxia in the maternal father.Physical exam reveals the boy has a long thin face with prominent ears,some facial asymmetry and a prominent forehead and jaw.His vital signs are normal,lungs clear to auscultation ,heart sounds normal,abdomen soft, nontender and nondistented. Examination of the extremity showed hyperextensible finger joints.The examining physician suspects a possible genetic disorder.What would be the best test to diagnose this disease?
A.Brain MRI
B.Cytogenetic testing for fragile X
C.Developmental evaluation by a speech or language therapist
D.EEG
E.Measurement of testicular volume
F.Southern Blot Analysis
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| jerker
Forum Newbie
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F: southern blot analysis.
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| Tiff
Forum Guru
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Klinefelters - Choice E.
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| paheli
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I'll pick B.
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| paheli
It'sAllAboutGoodKarma
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Tiff wrote:
Klinefelters - Choice E.
Whether it's Klinefelter's or not, isn't 9 yrs too early to diagnose on testicular volume. He's pre-pubertal.
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Prepare as if you're the worst, Perform as if you're the best! As you dream, so you manifest. So, DREAM BIG!! When you face hardship, remember, God never gives you more than you can handle. Success is the best revenge! He's my boyf! And, yea, I'm lying...:-(
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| angel23
Forum Elite
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i l also pick B...usavvy plz tell the ans
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| pr20
Forum Senior
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F.Southern blot analysis
Boy has Fragile X Syndrome which is a triple nucleotide repeat(CGG)disorder.Identification of triple repeats by molecular genetic techniques is the best way to diagnose these disorders.
Triple repeats can be identified by southern blot analysis or by amplification of the repeat by PCR.
Cytogenetic testing for fragile X can sometimes be false negative and measurement of testicular volumes may be helpful only in postpubertal males.
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| GoodGirl
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It could be B, and E . I think nowdays it would be more Southern blot analysis in the Fragile X disease.
Usmlesavvy, what is the answer ?
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| Tiff
Forum Guru
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Patient is showing all the signs of Klinfelters which is diagnosed by karyotyping which isn't an option. However, adolescents as well as older boys will have small testes which is why I opted for testicular volume - Choice E. But that's just what I think. Would love to know what the answer is usmlesavvy.
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| Tiff
Forum Guru
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After re-reading this question, it does say there was "early dementia and ataxia in the maternal father". Which makes me more inclined to now think it's Fragile X. And if so, then Southern Blot would be most ideal.
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| angel23
Forum Elite
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pt is showing signs of fragile X....???
dementia...prominent ears,prominent forehead,prominent jaw...
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| angel23
Forum Elite
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i l go with pr20.....for diagnosis of fragile we use either PCR or Southern blot
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| drgho
Forum Junior
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Fragile X. Answer is F.
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