To Shireen and Leoni Re; Dom/Genetic Testing

[Guest guest]

Hi Leoni and Shireen

My daughter, Kirsten (6yrs) has BPES. All her initial chromosome

tests came back normal. By initial tests, I mean karyotype. She has

46 chromosomes which all look normal. These chromosome tests were

done in South Africa and also in England.

The diagnosis of BPES was only confirmed genetically when her blood

was sent to the lab in Belgium and a deletion at FOXL2 was confirmed.

It took 3 months to get the results, but I understand it has been

known to take longer.

Looking forward to seeing everyone on the 13th!

Regards

Parsons

Colchester, UK

>

> 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

>