Tuesday, July 17, 2012

What is 1q21.1 microduplication syndrome?

What does 1q21.1 stand for? Well, duh...the 1 stands for chromosome 1, the q is means the chromosomes long arm (there is a short arm of the chromosome as well) and the 21.1 is the section of the chromosomes long arm that the duplication is in. Microduplication is when there are two or three copies of a similar part of the DNA on a particular spot and the Syndrome part... well, I don't agree that it is a syndrome.
  A syndrome is defined by Wikipedia as: a syndrome is the association of several clinically recognizable features, signs (observed by someone other than the patient), symptoms (reported by the patient), phenomena or characteristics that often occur together.I have researched this since we got the labs back, and I have not found any 2 people with the same symptoms! This blog is really some information that I have gathered, plus my own perception of it as it pertains to MY son. (do not read this blog if you expect to hear just  facts only)I have been questioning this diagnoses since we received it.(well, since I have been researching it)
There are apparently only 54 cases worldwide. (Well, genetically registered). So K would be 55.That's crazy right?! Only my kid would try to have something that Millions of people don't have! (IN YOUR FACE!!!). But, my opinion is- 100,000's of people are walking around with this right now and have no clue! They are not getting these fancy smancy chromosome tests because there is no reason to.I could have it, or his dad could have it. (if he got it from me then he will be destined to be awesome, and if he inherited it from his dad, well...hell be OK too!) :p As of right now I don't feel like we need to be tested. I don't feel like encouraging something I don't believe. 
When I first Googled 1q21.1 microduplication syndrome 3 seconds after I got off the phone with his doctor, I found Symptoms: autism/ mental retardation/physical anomalies/dysmorphic facial appearance/large forehead/wide-set eyes and schizophrenia. What!? Is he going to get all those things? Then I found the term Variable expressivity. This term refers to the range of signs and symptoms that can occur in different people with the same genetic condition, from no symptoms, mild or severe.So how is this considered a syndrome when YOU can be walking around right now with it? 
Now don't get me wrong, I also saw that symptoms can also include different ranges of development delay (he does have a speech delay. He talks, just he is suppose to say longer sentences.Another symptom or sign seen in people with this duplication is a bigger head.(YOU GOT US THERE!!).
So what I am trying to say is: Ok, he has a speech delay and a bigger head-Things I knew wayyy before we ever got these results. What am I to do about K's 's 1.195 MB interstitial single copy gain from the 1q21.1 region containing 145 oligonucleotide probes? Well besides figure out what the hell that means, NOTHING that I'm not already doing. He is in Early Intervention for speech, he will go to preschool in September and continue those services, and I keep buying bigger hats!

1 comment:

  1. My child has it too. Its so hard to find information on it. I've tried off and on since he was diagonsed to find any info and I'm just now finding some.