SUBJECT: 46,X,dir dup(X)(q13-q26)
MESSAGE: Hi I am from [LOCATION], I am wondering if you can help with some information on my duplication,
I have signed up to [LOCATION] here in [LOCATION] but only me, my mum and my sister and 1 other person have been found to have this genetic abnormaility. I have no idea about the other person but my sister was affected by it when she was born, when i was born we had no idea, My sister was born and tested me and my mum, showing my mum had the condition along with my sister. at that point it seemed i never had it. When i was 20 i went to my [PROFESSION] and they said my genetics department here in [LOCATION] wanted me to get retested, Found out that i do carry the same duplication. I have three younger brothers as well, two of the youngest with Autism,
None of the boys have the duplication, but i am wondering if these are linked?
I am wondering what Information do you have available regarding this duplication, I have fertility issues which i don't know of it is linked or not. My AMH level for my age at 26 is low at 4.6!!
my sister has had two children a boy and a girl none do not have the duplication. She also has Stage Two Kidney diease and was born with a horse shoe Kidney they thinks its linked
Please help! or is there anything you can advise for me in the UK to go get looked at further ?
Love from [NAME]

Summarized question: Where can I get information on the genetic abnormality 46,X,dir dup(X)(q13-q26), and  and how can I find physician(s) in the UK who specialize in genetic abnormalities?