Bela
Forum Guru
Topics: 76
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If a girl is diagnosed with Duchene's, how do you think she got it?
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La vita e bella!
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| usmleasr
Forum Guru
Topics: 105
Posts: 970
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unfavourable lyonization 
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| asmi
Forum Hero
Topics: 1043
Posts: 4,609
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"usmleasr" wrote:unfavourable lyonization
can you explain what is it ?
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| usmleasr
Forum Guru
Topics: 105
Posts: 970
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duchene is a X-linked disorder ..so women are not affected normally...becos they have one normal X chromosome....ie...50%paternal and 50 % maternal are inactivated at random...but it may happen in such a way most of normal X chromosomes are converted to barr body...(unfavourable lyonization..) in which case the female may express the disorder.. 8)
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| asmi
Forum Hero
Topics: 1043
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thanks usmleasr..
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| asmi
Forum Hero
Topics: 1043
Posts: 4,609
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usmleasr,
It seems rare cases of DMD in females are caused by X-chromosome autosome translocation ..resulting in disruption of dystrophin gene..giving rise to female who is heterozygous for DMD gene but phenotypically express the disease ....??
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