
Posted by marta facchin
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on 6/29/2009, 5:55 am
87.5.50.37
Hello there !
I try to introduce myself and my personal history hoping finding some useful informationand someone with the same experience.In 2005 I had my first daughter and on that occasion we discoveredshe had somne dismorfical traces on her face and some other problems.
Following to some genetical analysis, we have had the here below dignosis:in all analized metaphases ana unbalanced chromosomic set has been observed. There is the presence of a sovranumerical derivative satelized chromosome due to the maternal translocation between the long arm of a chromosome n. 4 and the long arm of the chromosome n. 22 and to the meiotic segregation of type 3:1.
In the end, since this is a very rare illness and none of the doctors we have been to semm to know nothing about, I would like to know if you have some information about this syndrome. Th doctors say that this baby is unique and we really don't have any case studies to off of yet.
I hope to connect with someone who has experience with this.
Best regards.
Marta
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