Syndrome de Rett
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There is a good info source on this condition at
triple w(dot)ninds(dot)nih(dot)gov/di
sorders/rett/detail_rett(dot)h tm -
And finally, let me explain that MECP2 mutations are not diagnostic of Rett's. I would like to draw your kind attention to this valuable link.
There are certain biological buffers in individual who have spontaneous mutations (mosaicism), x linked inheritance (incomplete inheritance/ mosaic inheritance/chimerism). Finally there is an asymptomatic female carrier state described.
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Thank you for clarifying. There is no shame in being humbled academically. Let me clarify. While she may indeed be affected by Rett's, this video is not diagnostic.
Can you please clarify more on the gene test? Did they tell you whether there was any mosaicism of MECP2 gene? This could explain the lack of hypo/hypertonia, scoliosis, breathing problems, gait disturbances/dyspraxia, Can you also please include the behavioural phenotypes on which the diagnosis was made and whether she has GI prob
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my girl have a spontaneous mutation. we had a diagnostic based on bloodtest. she had an irm, scanner. the genetician made tests for differents disease or disorder like angelman syndrom, x-fragile syndrome and metabolic disorder. i have a atypical rett girl. She don't have seizure yet, she started walking at 3 y and 6 months. She's having apnea, hands washing, hands in the mouth, sleeping problems. i never met the genetician because i still don't accept her diagnostic. it's to hard for me
ganimete05 3 months ago
in french : délétion complète de l'exon 3 du gène mecp2.
ganimete05 3 months ago
definitely not Rett's
overlordoftherings 3 months ago
@overlordoftherings my girl definitely have a rett syndrom. deletion on mecp2. i had her diagnostic on april 2009. thx for your comment
ganimete05 3 months ago