Guest guest Posted September 23, 2005 Report Share Posted September 23, 2005 bethgordon03 wrote: > I don't really get what you just wrote, so you are saying that this > article quoted that TYPE 1 is more common in males, and usually their > daughters are not affected by BPES, and TYPE 2 more common in females > and usually their sons are not affected by BPES???? Not quite. It's saying that fathers with type I BPES usually have male children (most of whom also have BPES), and fathers with type II BPES usually have female children (most of whom also have BPES). It didn't say how likely it is for daughters of type I fathers or sons of type II fathers to be affected. However, it also talked about " ... type I where there is transmission by males only and affected females are infertile. In type II ... transmission occurs through both sexes. " It doesn't say whether the offspring of either type or sex are (likely to be) type I or type II. Maybe the full articles or others do. > I'd be really interested to see these articles. The references are: [1] 'Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)'; Oley and Baraitser; Journal of Medical Genetics 1988 (vol 25), pages 47-51 [2] 'The blepharophimosis, ptosis and epicanthus inversus syndrome: delineation of two types'; J Zlotogora, M Sagi & T Cohen; American Journal of Human Genetics 1983 (vol 35), pages 1020-1027 You might be able to order these through your local library for a modest fee. I doubt they're available online because (a) they pretty much pre-date the Interweb thingy, and ( journal publishers are very protective of their intellectual property; but they might be. We got some from our nearest childrens hospital's library (info service for parents) and its genetic counselling service. Some web sites will let you order technical journal articles like these over the Interweb thingy (pay over the net, paper articles delivered by mail). A Google search for the authors and 'blepharophimosis' will find plenty of references to these and others. Rob W. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 23, 2005 Report Share Posted September 23, 2005 > > I don't really get what you just wrote, so you are saying that this > > article quoted that TYPE 1 is more common in males, and usually their > > daughters are not affected by BPES, and TYPE 2 more common in females > > and usually their sons are not affected by BPES???? > > Not quite. It's saying that fathers with type I BPES usually have male > children (most of whom also have BPES), and fathers with type II BPES > usually have female children (most of whom also have BPES). It didn't > say how likely it is for daughters of type I fathers or sons of type II > fathers to be affected. However, it also talked about " ... type I where > there is transmission by males only and affected females are infertile. > In type II ... transmission occurs through both sexes. " > > It doesn't say whether the offspring of either type or sex are (likely > to be) type I or type II. Maybe the full articles or others do. > > > I'd be really interested to see these articles. > > The references are: > > [1] 'Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES > syndrome)'; Oley and Baraitser; Journal of Medical > Genetics 1988 (vol 25), pages 47-51 > > [2] 'The blepharophimosis, ptosis and epicanthus inversus syndrome: > delineation of two types'; J Zlotogora, M Sagi & T Cohen; American > Journal of Human Genetics 1983 (vol 35), pages 1020-1027 > > You might be able to order these through your local library for a modest > fee. I doubt they're available online because (a) they pretty much > pre-date the Interweb thingy, and ( journal publishers are very > protective of their intellectual property; but they might be. We got > some from our nearest childrens hospital's library (info service for > parents) and its genetic counselling service. Some web sites will let > you order technical journal articles like these over the Interweb thingy > (pay over the net, paper articles delivered by mail). A Google search > for the authors and 'blepharophimosis' will find plenty of references to > these and others. > > Rob W. Quote Link to comment Share on other sites More sharing options...
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