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Genes and chromosomal issues
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<blockquote data-quote="GoingNorth" data-source="post: 730482" data-attributes="member: 1963"><p>If genes or chromosomes are missing/duplicated,you are going to see some pretty profound defects. More common is that a gene codes incorrectly for something, causing more subtle defects.</p><p></p><p>As regarding genetic defects, my husband and I both carry one copy of a gene that codes incorrectly for "clean up" of mucopolysaccharides in the brain. (it's a lot more complicated than that.)</p><p></p><p>Basically, this garbage chemical builds up in the child's brain, causing increasing and painful disability, and profound brain damage, until the the child is no longer able to survive.</p><p></p><p>"My defect" is called Tay-Sach's disorder and it is a disease of Ashkenazi Jews. I am of Ashkenazi Jewish extraction as was my husband. (Me 80% and he 50%) so we both wound up with the gene, meaning we inherited it from a carrier parent. In my case I suspect my father because there's a history of babies that wasted away by 3 or four and never were functional. vb </p><p></p><p>After years of fertility work (nothing to do with genetic defects), my husband and I, upon finding that we had a 50% of having an afflicted child, and a 100% chance of producing a carrier child, made the decision not to be parents.</p><p></p><p>There's some fascinating reading on the subject of chromosomal and genetic defect out there, even some stuff on an educated laymen's level.</p><p></p><p>Believe me, I can't make sense of some of it, and I'm a little bit above educated layman...just a little bit, and I am finding, much of what I thought I knew to be fact, with the advances in science, no longer is.</p></blockquote><p></p>
[QUOTE="GoingNorth, post: 730482, member: 1963"] If genes or chromosomes are missing/duplicated,you are going to see some pretty profound defects. More common is that a gene codes incorrectly for something, causing more subtle defects. As regarding genetic defects, my husband and I both carry one copy of a gene that codes incorrectly for "clean up" of mucopolysaccharides in the brain. (it's a lot more complicated than that.) Basically, this garbage chemical builds up in the child's brain, causing increasing and painful disability, and profound brain damage, until the the child is no longer able to survive. "My defect" is called Tay-Sach's disorder and it is a disease of Ashkenazi Jews. I am of Ashkenazi Jewish extraction as was my husband. (Me 80% and he 50%) so we both wound up with the gene, meaning we inherited it from a carrier parent. In my case I suspect my father because there's a history of babies that wasted away by 3 or four and never were functional. vb After years of fertility work (nothing to do with genetic defects), my husband and I, upon finding that we had a 50% of having an afflicted child, and a 100% chance of producing a carrier child, made the decision not to be parents. There's some fascinating reading on the subject of chromosomal and genetic defect out there, even some stuff on an educated laymen's level. Believe me, I can't make sense of some of it, and I'm a little bit above educated layman...just a little bit, and I am finding, much of what I thought I knew to be fact, with the advances in science, no longer is. [/QUOTE]
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