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Old 07-06-2011
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Genetics Earlier onset in daughter than her mom!

A female neonate has profound hypotonia. The only known complication of pregnancy was polyhydramnios. The mother has a lack of facial expression and weak muscles; she says she did not have any problems as an infant or child. Which of the following best explains the difference in presentations in the mother and child?

A) Anticipation
B) Delayed onset
C) Genetic heterogeneity
D) Incomplete penetrance
E) Pleiotropy
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Old 07-06-2011
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anticipation- myotonic dystrophy! what do you think?
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Old 07-06-2011
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Lack of smile and muscle weaknee--parkinsonism..hmmm..??
.....i could not get this one ..please can u explain in detail...thanks in advance
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Old 07-06-2011
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e - different symtoms/signs of same disease

terribly worded questions
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Old 07-06-2011
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why the polyhydramnoius - i also could not figure this one out- anticipation was a guess!
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Old 07-06-2011
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i thought it would be a mitochondrial thing and i thought the answer would be heteroplasmy but i didnt find it so idk
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Old 07-06-2011
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Answer is anticipation, it is from NBME form 1, block 1
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Old 07-06-2011
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Correct Answer Correct Answer is Anticipation

The mom's presentation is suggestive of myotonic dystrophy. The baby had polyhydramnios because any hypotonic baby has polyhydroamnios (they don't swollow properly).

Myotonic dystrophy inherited as autosomal dominant and manifests the anticipation phenomenon because it's one of the trinucleotide repeat disorders (read this Trinucleotide Repeats Diseases)

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