Guest guest Posted September 13, 2007 Report Share Posted September 13, 2007 It may be helpful for people to look here: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html then take a look at: Evaluations at Initial Diagnosis to Establish the Extent of Disease and Therapies Under Investigation Regards Shireen Mohandes London, England From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of barrsoccer Sent: 13 September 2007 01:23 blepharophimosis Subject: blepharophimosis Re: BPES 1 Thanks for your question. My daughter is 10 and I also wonder what the test is to determine POF. My daughter is a twin. She is 6 inches smaller than her sister (who does not have BPES - nor do my two other children) and has not started any type of female development, whereas her sister has begun developing. I do not know if she is Type 1 or Type 2 BPES. Our geneticist said that since there is no family history of BPES that Chromo 3 mutated for some reason. Is POF linked to whether BPEs is passed through lineage or mutated? Thanks to everyone-Ive only been on this web site for a few days and it is very informative. Amy Barr > > > > hi everyone. Today we had the results of tests to do with my > daughter's > > lack of periods, and we have found that she has POF (premature > ovarian > > failure) linked probably to BPES type 1.She is being referred to a > > geneticist. I wonder if anyone in the support group has any > experience > > and advice to offer, and could get in touch. Thanks, Laurel > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 14, 2007 Report Share Posted September 14, 2007 Dear Amy I have just read your email re your twins one having BPESand the other not I was very interested as my son and his partner were expecting twins and sadly one died the surviving twin Amber Jade is 4 months old and has BPES and we wondered if it was possible that one might not have had it. Incidently mu son has BPES and was under Mr Collin at Moorfields who successfully operated on him he is now 38 years old and has coped very well. If I can answer any questions for you I will gladly do so Regards Margaret Filbey Cornwallbarrsoccer <abarr@...> wrote: Thanks for your question. My daughter is 10 and I also wonder what the test is to determine POF. My daughter is a twin. She is 6 inches smaller than her sister (who does not have BPES - nor do my two other children) and has not started any type of female development, whereas her sister has begun developing. I do not know if she is Type 1 or Type 2 BPES. Our geneticist said that since there is no family history of BPES that Chromo 3 mutated for some reason. Is POF linked to whether BPEs is passed through lineage or mutated? Thanks to everyone-Ive only been on this web site for a few days and it is very informative.Amy Barr> >> > hi everyone. Today we had the results of tests to do with my > daughter's > > lack of periods, and we have found that she has POF (premature > ovarian > > failure) linked probably to BPES type 1.She is being referred to a > > geneticist. I wonder if anyone in the support group has any > experience > > and advice to offer, and could get in touch. Thanks, Laurel> >> Quote Link to comment Share on other sites More sharing options...
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