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Nov 30, 2012

Basic Genetics

Most of us know, that we are made up of DNA, that spiral ladder looking thing, that holds all of our information to make us what we are. Tall, short; thin, fat; hair color; eye color; smart, average; etc. We have 23 pairs of chromosomes, for a total of 46. We get 23 from our biological mother, and the other 23 from our biological father.

22 out of the 23 will determine all of the things such as intellect and what we look like, amongst other intricate things that make us unique to ourselves, and not even identical twins are exactly alike, as one may be right handed while the other is left. The 23rd set determines if we are male or female. X is female, Y is male. Women get an X from mom, and an X from dad. Men get an X from mom, and a Y from dad.

There are various information even on the sex chromosomes, such as how fertile and other things that can happen on that particular set too. Just because many of the issues are either dominant or recessive, doesn't mean it has to be a dominant gene to become reality, and dominant doesn't mean that it's expressed - it can be present, but not showing. And yes, some of these things are expressed on the X/Y genes as well. If you're male, and it's on the X, you inherited from your mother. Y from your father. On the other hand, females may have inherited from either parent, since we have both X's.

And you will be surprised, that some of them are called "de Novo" cases, where the mutation happened in vitro, to where it is genetic on one hand, because it's in the chromosomes, but, de Novo, meaning "of the beginning". So yes, it could be a brand new beginning of the mishap gene.

16th Chromosome Issues: 16p11.2 microdeletion

My son and I have this microdeletion. It's on the p arm of the 16th chromosome, in the band numbered 11.2. We are missing about 600kb worth of info on ONE, not both of the chromosomes. What is odd, is that often times, this shows up as a new case, though often it is inherited by a parent.

Funny thing is, I was taking my son to the doctor, because he still has balance problems, and cannot ride a bike at the age of 12, although he can ride a scooter. We were thinking he inherited something from his dad, which could be in any form... X, dominant or recessive. Recessive would mean a mild form, dominant, which means that a recessive gene would not have done anything, or on the X.

His father, my ex, has a different disability, called Charcot-Marie-Toothe syndrome, aka perineal nerve disorder. It's shown by the fact that the forearms, calves, the meaty part of the hand by your thumb, and the small of the back is really weak, disproportionately to the rest of the body. It's inherited, and you either have it, or you don't. So, we went up to a neurologist, who tested and didn't think my son fit the CMT. But, other things popped up, such as the fact that my son's toes are slightly webbed at the bottom, giving it the look that they all start in different places, rather than inline, and the low set earlobes. It was this deletion.

Another tid bit is, that often times, there is a dimple on the back, below the small of the back, right above the tail bone where the hips join at the spine, almost making it look like an extra little line, with a dimple that almost resembles a cleft chin. This dimple is most present during babyhood, and eventually might virtually disappear.

Many of the people affected by the deletion have language delays, a higher rate of Asperger's Syndrome, or even ADHD. Here is a link to help understand more, although it's in it's beginning to find out all there is to know.

There is also a higher rate of abnormal EEG's and seizures, which may have been attributed to one of the old vaccines, no longer in use. While that vaccine may have been a trigger, it wasn't the main cause. My son and I both had the seizures, yet normal EEG's, and we are both medication free since we were 5 years old. Funny thing is, neither of us have the hyper, though my son might have the ADD.

We were well enough not to have had the language delays, I was actually early, while my son was on time, though he used to mumble, and still needs reminders to speak up. While we don't have the learning disabilities per se, we definitely think "differently" than the norm... it's not an out of the box thing, it's just that our line of thinking is not the usual line of thinking. We might come to the same conclusion using different methods, which may not make sense to you, but perfect sense to us. I am lucky to have an average IQ, though we haven't had my son tested yet. His learning disabilities seem to be that he understands concepts, such as how to add or subtract, multiply/divide, etc, but, can't memorize the facts, such as 3x7=21. He would have to add 7, 3 times.

In physical ways, the microdeletion affects obesity, and also our appetite. We happen to be more hungry than the normal person, and no matter how healthy we eat, we have difficulty losing weight. So, being over weight may be something that we just have to live with, although we try to be as healthy as possible by eating good foods rather than high fat junk with empty calories.

We are still waiting for the test results from a neurological psychologist, and while that will help us determine his IQ and what, if any learning disabilities, I don't think it will quite tell us enough, or to answer what ever questions I have for the future, since my son and I understand each other pretty well, more so than most mother/child relationships. Could it be that he does have some behaviors attached to it that he could be considered special needs? Or maybe because I'm his mom, I'm supposed to understand, or that we both have the same deletion?

I don't know. Maybe all three. He seems to have it more. Aside from the obesity and hunger issues, I don't really express other parts of it.

What concerns me is, this 16p microdeletion affects insulin registration, and I'm diabetic with high numbers. I'm on insulin. I walk, and if I have high pain, my numbers are still high. I can eat legumes, corn, peas and honey, and they don't spike my blood sugars even though they're considered starches if you're diabetic. Go figure.

X Chromosome Issues: Xp22.33 microduplication

With the Xp22.33 microduplication, here again, it's on the X chromosome, p arm and the band 22.33 kb is triplicated - yes a set of 3, and for women, it's only on 1 x, not both.

This is one of those that you may be at higher risk of developing lupus, because of this info, but with the duplication, it affects males more than females, because we have the XX, rather than the XY. The males that have the extra is even higher yet to possibly getting lupus.

Here again, it could be a de Novo case, as well as it could be that it was inherited. My son and I have this microduplication as well. Odd thing is, there was only a 25% chance that my son would inherit BOTH from me, rather than being de Novo or just one but not the other.

Odd thing is, there are various learning disabilities attached to this too, including ADHD, yet neither of us, with this microduplication nor the 16 microdeletion have this diagnosis. There are other learning disabilities that my cross over as well, including certain autism spectrum issues, yet that isn't expressed in either of us either.

Other disabilities associated with this are other developmental issues such as not being able to sit up w/o support, etc. Respiratory and breathing issues may be a problem, and you may be prone to that. I am. My son, not as much, to which I'm grateful.

What's the fuss?

The fuss is, because there are so many issues that are tied up with the genetic issues, and many primary physicians don't understand the intricacies, it is important that you get your doctor to pursue knowledge together on this, even if it means you go to the geneticist, endocrinologist, or whom ever can help you understand the issues.

I am lucky that my doctor and my son's pediatricians understand the gravity of all of this, though since we are probably the only patients (that they know of) with these issues, so, we may have to be the guinea pigs, and go find our own answers to come back with. So please, find a doctor willing to work with you, and it would help if the doctor is an endocrinologist with basic understanding of genetics.

Many of the issues such as bronchitis and pneumonia will be treated as such, even if we are in the situation that we are at higher risk, thus needing stronger medicines at times.

Please feel free to ask questions, or leave comment. I'd be happy to share with everyone about what I know in more detail.

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Posted: Friday November 30, 2012, 1:45 am
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Lika S.
female, age 45, married, 2 children
Racine, WI, USA
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