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Post by joseylouber on Aug 13, 2010 11:40:03 GMT
Hi everyone
I am in desperate need of some advice. Me and my husband are going through the genetics process now, and they think that our daughter may have Cobblestone Lissencephaly which is type 2 lissencephaly. They have said that if she has this we will be given a 1 in 4 chance of having another child with the same condition as cobblestone lissencephaly is an inherited condition. I can't believe this!! has anyone got a child with Cobblestone Lissencephaly? if so have you been told the same as us? Please, please give me some advice if you can as I am so worried.
Thank you Jo xx
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Post by liz on Mar 17, 2012 16:58:53 GMT
My daughter Ariel has been classidied as cobble stone as well althought there is a lot of confusion at the moment because her gentic tests did not indiciate any mutations and her muscle enzyeme test also are normal but we were also told that there would be a one and four chance. I wish i had some answers but we are still lost in the maze of confussion ourselves.
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Post by m on Jan 22, 2013 4:32:31 GMT
The cobblestone lissencephalies are recessive, genetic diseases.
Each person has two copies of each gene, one from each parent. In a recessive disease, both copies of the gene have a mutation that usually results in the gene being non-functional. This means that both parents of the child with a recessive gene have one copy of the non-functional gene, and one copy of an functional gene. When parents pass on their genes to the child, one of the copies of their genes is randomly passed on. So you have: Mom: Non-functional gene (M1), functional gene (M2) Dad: Non-functional gene (D1), functional gene (D2)
For this gene, their children can have the following possibilities (one from each parent):
M1 D1: two non-functional genes, they have the disease M1 D2: one non-functional gene, no disease M2 D1: one non-functional gene, no disease M2 D2: two functional genes, no disease
So you see that all children have a 1/4 possibility of inheriting one non-functional gene from each parent and having the disease.
Many genes have been shown to cause cobblestone lissencephaly, but not all of them are known. So far they have all been recessive and the disease is passed on in a recessive manner, so even if they cannot find the exact gene it is still 1/4 chance due to the recessive manner of passing the disease.
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Post by sunlight on Mar 10, 2013 17:41:16 GMT
I am from Vietnam. I am looking for the valuable advice from all of you to helps my son. He is 6 months old, he has been diagnosed Lissencephaly syndrome (smooth brain). I have researched this brain disorder and know that it is small chance to develop my son conditions, because it is caused by neuronal malformation. His wealth status is well eating, can roll over, can smile and well know around people, from 5 months old he spend some seizures - now the local doctor give him medicine - seizures have been controlled. It will be my great honour to receive any news about this or if he can have any chance to survive. I really would like to know how and where can treat the Lissencephaly (smooth brain) syndrome. Many thanks,
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fammi
New Member
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Post by fammi on Dec 11, 2013 4:22:24 GMT
my daudhter is one year old she also has cobblestone lissencephly.she roll over.laughs and no feeding problem but has vision problem doesnot respond to people on calling.cant stand and sit.is any one has somw advice for me
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