To /Shireen Re; Dom/genetic testing

[Guest guest]

Hi,

Thanks for your reply ; that is very interesting to me. Dom had

his tests done and the results use the word Karyotype and yes, they

came back as 46XY. To be honest, I did not realise this might not be

the end of the matter; i.e. that further tests could reveal something

else; I will now definately push for further testing although I

suppose it is not an emergency issue.

Shireen; the tests were carried out in Athens Greece I believe; I

will be addressing the above issue and over the next year will

obviously keep in touch and let you know if Dom's case turns out to

be as with 's daughter, Kirsten.

The medics were pretty certain it was BPES as opposed to bilateral

ptosis because of the other symptoms involved.

Thanks again for replies.

Best wishes

Leonie

> > >

> > > Hi Leoni

> > >

> > > Thanks for explaining. Are you able to let us know where the

> > genetic testing

> > > was carried out?

> > >

> > > Am only asking because I am in infrequent communication with

some

> > > geneticists, and I try to collect the rarer questions and ask a

> > whole bunch

> > > in one go.

> > >

> > > Thanks

> > >

> > > Shireen

> > >

> > >

> > >

> > > From: blepharophimosis

> > > [mailto:blepharophimosis ] On Behalf Of cretemum

> > > Sent: 05 January 2009 19:55

> > > blepharophimosis

> > > Subject: blepharophimosis To; Shireen Re; Dom/Genetic Testing

> > >

> > >

> > >

> > > Hi Shireen,

> > >

> > > Thanks for your reply. Sorry if I confused you; I sometimes do

> that

> > to

> > > folk!

> > >

> > > Dominic (Dom) is my two year old. My husband, my two older

> children

> > and

> > > myself do not have BPES and no one in our families do. Dom is

the

> > first.

> > >

> > > When Dom was dx with BPES they noted he had ptosis of the upper

> > lids

> > > and epicanthal folds but that his eye openings, width ways,

were

> > normal

> > > although the eyes are widely spaced and he has a flat nasal

> bridge.

> > >

> > > They dx BPES despite the absence of one of the symptoms.

Dominic

> > then

> > > had genetic testing, searching for the genes involved in BPES

but

> > the

> > > results came back 'normal' i.e. none of his chromosomes have

> > anything

> > > deleted/mutated etc.

> > > They specifically tested for BPES and a few other syndromes to

> > possibly

> > > link the BPES with the Hydrocephalus. Nothing was found.

> > >

> > > I did ask the medics whether or not the dx of BPES was

therefore

> > > accurate and was told that it was. This obviously left us in

some

> > limbo

> > > as we do not now know which type he has or whether it can be

> passed

> > on

> > > to our sons children in the future.

> > >

> > > Whilst I know that all the above changes nothing; i.e. Dom is

as

> he

> > is

> > > whether he has BPES or not, I am obviously interested to know;

I

> > will

> > > be asking these questions amongst others in May at the

conference.

> > >

> > > But I thought I would see if anyone else on this site has had

> this

> > > situation occur.

> > >

> > > Thanks for your continuing support; you do a wonderful job.

> > >

> > > Best Wishes

> > >

> > > Leonie

> > >

> >

>