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Chromosomal Deletions & Duplications on Microarray
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Chromosomal Deletions & Duplications on Microarray

Recently there has been a tremendous increase in the number of questions posed about duplications and deletions found on chromosomal micro-array (CMA), and I post this in hopes that it will help alleviate some of the frustration so many people encounter when given information about abnormalities seen on this kind of chromosome testing.  

First of all, it's important to understand:  CMA analysis is pretty new science.  The ability to test for micro-deletions and duplications can be considered as still in its infancy, just recently borne out of the past decade.  Therefore, very little information is currently available about what they are finding on these tests.  It's important to remember that Genetic testing, in comparison to other sciences and medicines, is a fairly new method of approaching health care, and what can be identified in a scientific laboratory setting does not necessarily translate into medical understanding.

The human genome with all its complexity has the potential for an infinite possibility of variations: duplications and deletions can now be detected and reported, but with no historical basis for comparison, interpreting the existence of these chromosomal variations remains a challenge.  Oftentimes abnormal results don't lead to any answers at all simply due to the fact that many of these results are new findings.  Not necessarily that the condition never existed before, simply that it was never documented -- the technology simply did not exist. Think of CMA testing where it is today as akin to the finding of the Rosetta stone:  we can see the stone and identify the markings, but we are unable to understand what it means due to a lack of reference.

It is surely frustrating to be do test after test that yields no helpful answers, only more questions.  The only encouragement that I can offer those who are struggling with these concerns is that as genetic understanding continues to advance, identifying and collecting the information gained by such testing is the path by which science can arrive at answers in the future. The information may be an enigma today, but it may lead to understanding and answers for those affected now and in the future.  

Best wishes to all.
9 Comments Post a Comment
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395787_tn?1298432387
i have an appreciation of science and research,but also find there is a lack of communication in the findings,as much as you say your frustrated searching for answers,how do you think we feel as parents,you all have ideas and notions but these are only shared with colleagues and professionals alike.22q11.2,cant get a lot more rarer than that,do your science stuff,but feel slightly patronized by bein told its a slow process and you are as frustrated because i dont think thats possible
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419309_tn?1326506891
I am neither a scientist nor a researcher, marialou.  In fact, I agree with you that there is a lack of communication about findings, but you presume incorrectly that I am anyone who does any "science stuff". I do not presume to understand the complexity of the science, nor the feelings or frustrations of parents like yourself who have to deal with these situations. I just know there IS frustration, because I know people who are facing similar situations and I am simply trying to understand it all as well.

I'm sorry that my post did not help you, and that you felt it patronizing; it was not my intent. I simply posted in the hopes that what I have learned about genetics, or the lack thereof, might help others who are looking for answers because I have seen the frustration and know parents that have had to face the lack of information in general.  I do think it a bit hasty though to presume what I might be or to assume you know what frustrations I may or may not have, with all due respect.  Best wishes all the same. ~eureka
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395787_tn?1298432387
if your not a scientist and have done no research,nor do you PRESUME to understand the complexity of science or know first hand the feelings and frustrations of parents actually goin through such experiences..ok you may know someone but without having knowledge first hand. then how on earth did you expect or think for one minute your post would even be of any benefit to anyone?...with all due respect
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419309_tn?1326506891
"how on earth did you expect or think for one minute your post would even be of any benefit to anyone?"

My post was to encourage people -- scientists, researchers, teachers, and parents alike -- to keep searching and sharing information in hopes for a better understanding in the future.  Perhaps my post benefited no one... but did you really 'think for one minute your post would even be of any benefit to anyone?'
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395787_tn?1298432387
my post was directed at you and you alone,so actually no,i didnt expect anyone to reap the benefits of it in the slightest,but you seem to have some knowledge of genetics so i apologise if im wrong.i guess my question is then..do you?
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419309_tn?1326506891
The general direction of your post appeared hostile, and I'm still not quite sure why you responded the way you did.  

It seems what you are saying now is that you apologize if I'm not knowledgeable about genetics, but if I am knowledgeable, you still maintain your previous stance?  

My thought is that your response would make anyone -- scientist or layman -- who has useful information a little hesitant to share what they might have learned for fear of being accused of patronizing, or you taking offense to it not being first-hand knowledge, as I do not personally have a genetic condition...
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395787_tn?1298432387
dear eureka,first of all,i apologise for being so confrontational towards you,it truely isnt personal,and im my own worst enemy for reacting the way i do.it is not the person i am so sometimes i dont know why i get so defencive...i think,in fact i know its because of my own experiences and i guess i let what i have gone through cloud any other opinion anyone else may have.im doing my best to deal and work around that,and again i do apologise for not being open minded and not understanding your point of view and being so negative,everyone is different and your opinion is valid and im sorry for not taking that on board.i hope we can start again.lisa
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419309_tn?1326506891
The challenges you must face as a parent are those I can't even imagine, and sometimes it's hard to really understand each other with just words on a screen.  As I said, I do not want to anger or offend anyone, but I do believe in and appreciate your honesty.  I think what makes MH a great place is its variety of opinions and viewpoints, and it can be a wonderful resource for information and support.  We may come from very different perspectives and have differing opinions, but hopefully we can continue to have positive constructive dialogue. :)
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i couldnt agree more,medhelp is a site that is there for people to search for help and to also help others from ther own experiences and hopefully learn from each other with utmost respect and positivity.
with that,i thankyou for your posts and i wish you all the best
with love
lisa
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