NB F3 S3 Developmental Delay

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NB F3 S3 Developmental Delay

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pearljam59
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03/21/06 - 07:32 AM

A 35-year-old woman, gravida 2, para 2, comes to the physician for preconceptional counseling. She has an 8-year-old daughter and a 5-year-old son. Both have mild developmental delay. The woman's brother, aged 32 years, has mild mental retardation and fragile X syndrome. Which of the following is the most likely cause of the developmental delay in this woman's children?

A. Chromosomal aneuploidy
B. Expansion of trinucleotide repeat
C. Imprinting
D. Uniparental disomy
E. X chromosome deletion

shocked

robin082006
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03/21/06 - 08:25 AM

B

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doc179
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03/21/06 - 04:47 PM

druas
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03/21/06 - 09:23 PM

drbin
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04/06/06 - 12:06 AM

b

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klimt
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09/30/06 - 01:03 PM

B - CAG repeats

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young_doc
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09/30/06 - 07:18 PM

klimt wrote:
B - CAG repeats

CAG is for Huntington's, not Fragile X!! :P

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klimt
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10/01/06 - 10:32 AM

You're right young_doc, sorry I meant CGG repeats

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ManuNastai
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10/09/06 - 03:12 AM

let's see:
CAG - Huntington's
CTG - Steinert's Muscular Distrophy
CGG - Fragile X Sdr

anything else?

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