I cell

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I cell

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4 Posts

mjl1717
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Topics: 956
Posts: 5,454

04/02/04 - 03:50 PM

Can anyone briefly compare the difference between I cell disease and Fragile X syndrome?

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matty
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Topics: 12
Posts: 24

04/03/04 - 01:10 PM

just remember that fragile x syndrome is sex
chromosomal abnormality.SXR
there are progressively longer tandem repeats of trinucleotide CGG may be 250 to 4000.on long arm of X chomosome,the longer the no. of repeats worst is the disease.as tandem repeats are tends to accumaulates through the generations,dis.becomes worst,it is called as anticipation like huntington's chorea.
this is second most coomon cause of mental retardation after down's syndrome.

presence of macro-orchidism in males,
enlarged ears,M.R,NARROW FACE ,hyperactivity during childhood.

lad diagnosis; abn.fragile X gene.
and DNA analysis.

Idiopathic
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Topics: 19
Posts: 641

04/03/04 - 05:34 PM

"matty" wrote:
as tandem repeats are tends to accumaulates through the generations,dis.becomes worst,it is called as anticipation like huntington's chorea.
this is second most coomon cause of mental retardation after down's syndrome

this is also how females can get fragile x, through anticipation.

be careful with this MCC...i believe that fetal alcohol syndrome is the most common cause of mental retardation, but downs/fragile x are the most common genetic causes.

mdwannabe
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Topics: 37
Posts: 1,133

04/03/04 - 10:35 PM

absolutelly right.

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