Welkom to the board
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Post by Welkom to the board on Apr 25, 2005 18:29:46 GMT -5
Hello,
My name is Mario, I live in The Netherlands, Europe, and
we heard a few weeks ago that our daughter (Elodie, 13) has a chromosome disorder. (2q37, and something with chr. 20 translocation??) It's all new to me!!!
After 13 years of visiting doctors and specialists, we finally know what is the cause of all the things she has.
She is mentally handicapt, autistic, she has scoliose and
epilepsy.
Her hands and feet are differend (her index- and middle vinger are longer then the others, also for the feet) ,she has big eyebrows, lots of thick hair, with a blond lock in between. she's allways been smal, the last year she beginning to grow. The ears are low and the nose is smal.
There not much information about this, there are some
websites in Holland, but not specificly for chromosome 2 disorders .
I hope to get some responce, (sorry for the mistakes in English!)
Greetings from Holland,
Mario
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Post by karicasas on Apr 27, 2005 12:31:24 GMT -5
Mario,
Your daughter's autism, scoliosis, seizure disorder, short 4th and 5th fingers, growth delay, low ears, and small nose are all features consistent with loss of chromosome material 2q37-qter (see more in the Ask the Doctor Section - January 2004 and August 2004). Her white hair lock may be a sign that more proximal parts of chromosome 2q are also involved (2q35-q36), or a sign of the chromsome 20 translocation. What are her breakpoints?
Thanks for sharing your story,
Kari Casas
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Post by Mario de Korte on Apr 29, 2005 16:05:36 GMT -5
Hello Kari, Saturday, 10.45 p.m.
Thanks for your reaction!!
I don't know how this messageboard works, so I just
respond like that.
It is now saturday evening, and on monday we have an appointment with the genetic doctor who took blood
to see if me or my husband is a "carrier"of this chromosome defect, if so, our eldest daughter will be
controlled also, she could get a child like that also,
I really don't hope so!!
Then (monday) we will know more about breakpoints,
the exact defect, etc.
I don't know so mush about it, I'm searching the web
but it's all so technical!!
I will let you know after Monday,
Thanks for your responce!!
Greetings from Holland.
Mario
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Post by Mariox on May 3, 2005 17:38:51 GMT -5
Hello Kari and others,
It is now thursdayevening 11 o'clock and yesterday I heard that I have a balanced translocation 2-20, so I am the bearer of the syndrome that my daughter has.
It"s called AHO (Albright Hereditary Osteodystropghy-like Syndrome) PPHP. Her breakingpoint, Kari, I don't
know exactely what that means, Her genetic code is
46xxish.der(2)t(2;20)(q37.3;q13.3).
It's al so new to me and I will have to read more about it.
Now, my other daughter needs to be controlled also.
And maybe also my brothers ans sister!!
Its not nothing!!
Greetings from Holland.
Mario
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Post by jomarie on Jun 20, 2005 22:27:43 GMT -5
my daughter has 2q37.1 she is 4. this is all website is new to me but we new from birth that something was wrong, the doctors thought it might be downs but the tests revealed 2q37.1 she was recently diagnosed with Autism and has ALOT of behavior issues. pinching, biting, hitting her younger sister,
if anyone has any info they'd like to share please let me know or maybe there might be something i could share.
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Post by cate on Jun 27, 2005 10:45:07 GMT -5
Hello, My name is Mario, I live in The Netherlands, Europe, and we heard a few weeks ago that our daughter (Elodie, 13) has a chromosome disorder. (2q37, and something with chr. 20 translocation??) It's all new to me!!! After 13 years of visiting doctors and specialists, we finally know what is the cause of all the things she has. She is mentally handicapt, autistic, she has scoliose and epilepsy. Her hands and feet are differend (her index- and middle vinger are longer then the others, also for the feet) ,she has big eyebrows, lots of thick hair, with a blond lock in between. she's allways been smal, the last year she beginning to grow. The ears are low and the nose is smal. There not much information about this, there are some websites in Holland, but not specificly for chromosome 2 disorders . I hope to get some responce, (sorry for the mistakes in English!) Greetings from Holland, Mario |
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Post by Inger Ouwerkerk on Mar 2, 2006 6:26:44 GMT -5
Hello Mario,
I am also from Holland. Can we have contact? Because our daughter is 13 years old and we know for a month now that she has 2q37.1.
Greetings Inger Ouwerkerk.
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Mario
New Member
Posts: 1
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Post by Mario on Mar 4, 2006 8:59:41 GMT -5
Hallo, Inger,
I would like to come in contact with you to exchange
info about our children.
Can we exchange e-mails?
My e-mail is: mariodekortedelete@yahoo.com
(take out delete)
Kunnen we in het Nederlands schrijven?
Greetings Mario
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Post by wowgold on Apr 20, 2009 3:32:42 GMT -5
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