3/20/09 - Just when we thought everything was over - here we go again!
The Genetic Counselor with the Brody School of Med. Called this afternoon about 2:45. There is no evidence of Trisomy but there is an inversion of part of the 9th Chromosome. This could be hereditary so they now want to test mine and Thomas's blood. If either of us possess this inversion and we are both healthy there is no reason to think that Toby will not be healthy. If this is "new to the baby" they will do further study to see exactly where the chromosome broke and flipped around before reattaching. This will help indicate any issues that we may have to face once he is here. Inv(9) as they call it, can be responsible for dimorphic features, congenital defects, development delays and phenotype development. This being said studies have shown that although there is a significant link to inv(9) and genetic human diseases, 1-3% of normal humans in general population possess this inversion. From what I can tell inv(9) is one of the most common. We have an appointment back at the Brody School of Medicine on Monday at 8:00AM. We will find out more about the defect and both of us will give samples of our blood for analysis.
I will keep you posted so check back later for more updates.
The Genetic Counselor with the Brody School of Med. Called this afternoon about 2:45. There is no evidence of Trisomy but there is an inversion of part of the 9th Chromosome. This could be hereditary so they now want to test mine and Thomas's blood. If either of us possess this inversion and we are both healthy there is no reason to think that Toby will not be healthy. If this is "new to the baby" they will do further study to see exactly where the chromosome broke and flipped around before reattaching. This will help indicate any issues that we may have to face once he is here. Inv(9) as they call it, can be responsible for dimorphic features, congenital defects, development delays and phenotype development. This being said studies have shown that although there is a significant link to inv(9) and genetic human diseases, 1-3% of normal humans in general population possess this inversion. From what I can tell inv(9) is one of the most common. We have an appointment back at the Brody School of Medicine on Monday at 8:00AM. We will find out more about the defect and both of us will give samples of our blood for analysis.
I will keep you posted so check back later for more updates.
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