Monday, April 2, 2012

Wendy Syndrome

a. 46, XX, der(7)t(7;10)(p22.2;p15.1) de novo
b. nuc ish(DXZ1,RB1,D18Z1,D21S259,D21S341,D21S342)x2
c. arr 7p22.3p22.1(136,363-6,480,604)x1,10p15.3p15.1(128,680-3,820,075)x3

My brain is on overload right now, so I going to try and get this typed out to the best of my abilities.

There are two types of chromosome translocations; balanced and unbalanced. In ideal situations, balanced translocations can be an even exchange, with no missing genes, and fully functional. Unbalanced translocations, like Wendy's, means the material is unequal and either the person will have extra genes or missing genes. Wendy has missing genes.

Once you figure out the chromosome abnormality and break it down, it can be put in a database and compared to similar cases. You can see what problems the missing or extra genes caused for other children. Wendy's case was only comparable to 3 or 4 other cases, however, there were some defects in those children, that we have also noticed on Wendy.

Unfortunately, Wendy seems to have quite a few missing genes. One of the missing genes seems to cause children's nipples to be spaced far apart, and Wendy has that. Another causes the wide nasal bridge. Speech delay, developmental delay/mental retardation, and deafness are associated with several of her deletions. Microcephaly is another common issue with one of her deletions. Partial monosomy 7p is usually associated with heart defects, which luckily, Wendy does not have. And after reviewing Wendy's growth charts and her deleted genes, they said she is likely to be extremely small. How small? We're not sure. Right now she is 21 inches. Her weight is increasing better than her height which means it is not an issue of malnutrition, but rather an issue of her DNA. At 2 years old, if we take her height and double it, that will be a rough estimate of how tall she will be.

After talking to the geneticist, our main concerns should be about her vital organs; heart, kidneys, liver, etc. And other than the mild kidney reflux, her organs are looking okay. Also, her brain growth is another concern. However, short of doing another MRI there is no way to tell how it is developing and without her showing symptoms, there is really no reason to put her under anesthesia to do an MRI. At about 3 years old, the geneticist suggested we do a developmental study on her to see how she is measuring against "normal" children.

So for now, it's all a waiting game. They said that the fact that she was born alive and is doing this well is remarkable seeing how many deletions she has and we will just have to let Wendy show us what she is capable of. We really didn't learn anything new, but we got copies of her specific genetic makeup.

I will probably think of a million more things I forgot to mention in this post, so if I do, I'll post again later, but for now, this is all my brain can comprehend. And trust me, if you saw the paperwork, this would probably be all you retained too.

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