Microduplication 22q11.2 syndrome is caused by an extra copy of a small piece of chromosome 22 at location q11.2.
Microduplication 22q11.2 syndrome is caused by an extra copy of a small piece of chromosome 22 at location q11.2.
The microduplication occurs in 1 out of 320 people with developmental problems. The counterpart is a common disease called microdeletion. Microduplication and microdeletion should technically occur in equal proportions. However, microduplication is a rare disease because it is often underdiagnosed since regular chromosome tests can easily miss the microduplication. Lastly, some affected individuals are not diagnosed because they do not have any developmental problems.
|22q11.2 duplication||22q11.2 duplication|
|Chromosome 22q11.2 duplication syndrome||22q11.2 duplication|
|Chromosome 22q11.2 microduplication syndrome||22q11.2 duplication|
Many of affected individuals inherit the microduplication from a parent. It is possible to not inherit it and it can occur randomly during reproduction or fetal development. Typically, location q11.2 contains about 20 genes involved with brain and bone function. The extra copy contains about 30-40 genes and has no known function at this time. Also, it is possible to have a shorter microduplication, but it does not correlate with the severity of disease manifestation.
Many affected individuals have no apparent physical or intellectual problems. This rare disease can vary in manifestation, even among family members that have the same size duplications. The affected individuals can have developmental issues and intellectual disabilities. The symptoms can vary between each person; but not all affected individuals will have all the symptoms. They are listed below in no specific order:
Growth delay – short stature
Motor delay – weak muscle tone
cognitive impairment – learning disabilities
Behavioral problems – obsessive compulsive behavior or aggression
Tourette’s syndrome (TS) or tics – TS is a type of tic or movement disorder
Low weight – can require a feeding tube
Microcephaly – abnormally small head
Heart defects or diseases
Ear defects or diseases – with or without hearing loss
Urinary tract or kidney defects or diseases
Velopharyngeal insufficiency – body’s inability to close the area between the mouth and nose which impairs speech, eating, and breathing
Cleft palate – roof of the mouth opens into the nose which impairs speech, eating, hearing, and causes ear infections
Widely spaced eyes with down-slanting eye lids and high placement of eyebrows
No thymus, a small organ near the breastbone that plays a role in the immune system until puberty when it shrinks and is replaced by fat
Asplenia – spleen does not function properly
Intestinal malrotation – abnormal position of intestinal organs
Retrognathia – abnormal position of jaw
Immunodeficiency – dysfunction of the immune system that can make people more prone to infections
It is difficult to diagnose microduplication because many affected individuals have no symptoms and are not tested. The affected individuals are typically tested because of developmental delays. The age range for diagnosis varies from newborn to 18 years of age.
Regular chromosome test can easily miss the microduplication. A chromosomal microarray test is used to amplify the chromosomes to better see the duplications. Prenatal testing is also feasible, but it is not possible to predict if the affected individual will present physical or intellectual problems. There is currently a clinical trial that is recruiting participants to develop a non-invasive prenatal test to detect 22q11.2 deletion or duplication during pregnancy.
There is no treatment specific to microduplication 22q11.2. It is important to manage and treat different manifestations. There are many doctors that specialize in different parts of the body that can help with surgeries and disease management. Additionally, there are educational programs available to help with learning and disabilities.
Prognosis can be poor especially if a fetus or newborn presents with multiple abnormalities and malformations. Some die young due to complications, but others live into adulthood as long as defects or diseases are managed. Also, affected individuals that do not have any problems or symptoms can live a healthy life as well. However, they still have a chance of passing the microduplication to their children without knowing if their children will manifest the disease.
Many researchers recommend DNA banking. It is the storage of DNA for future use because testing and understanding of genes and disease will continue to improve. Genetic counseling is also recommended for individuals with milder forms of developmental delay or near-normal manifestations. One can evaluate the genetic risk in family planning and reproductive options.
Clarke, Raymond A. et al. “Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication.” Case Reports in Medicine 2009 (2009): 361518. PMC.
Ensenauer, Regina E. et al. “Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients.” American Journal of Human Genetics 73.5(2003): 1027–1040.
Firth HV. “22q11.2 Duplication” GeneReviews® [Internet] 2009 Feb 17 [Updated 2013 Nov 21].
Non-Invasive Chromosomal Evaluation of 22q11.2 (22Q). ClinicalTrials.gov Identifier: NCT02541058.
Ou, Zhishuo et al. “Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.” Genetics in Medicine 10(2008):267-277.
Portnoï, Marie-France. “Microduplication 22q11.2: A new chromosomal syndrome.” European Journal of Medical Genetics 52.2-3(2009):88-93.
Wentzel, Christian et al. “Clinical variability of the 22q11.2 duplication syndrome.” European Journal of Medical Genetics 51.6(2008):501-510.
Yu, Sui et al. “Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.” Clinical Genetics 73.2(2008):160-4.
Sometimes it could even be an electrolyte imbalance. If so, try more drinks or foods with electrolytes. If it is an electrolyte issue, you might even want to consider getting a doctor prescription for the school nurse to give them juice at certain times in the day at school to keep them balanced. I usually just make sure they watch my sons sugar intake.
Most of the behavior issues ive noticed from this disorder in my son who is 6 years old now, are linked to quite a few things. One is sugar. I have to be very strict of what time of day and such when he gets sugar or he becomes quite uncontrollable. Another thing is social activity. The influences he sees and tries to follow. And the last thing is the educational and physical frustrations. Though at times i realize that my son has memory loss contributing with his behavior at times. I have memory loss as well. I blame it on microcephaly i have caused by the disorder. I believe my son has microcephaly also. Usually i do therapy on my son myself. Its important to explore all hands on activities as possible. Its helpful to be open to them and even using old methods you remember from your childhood. Ive taught my son to take a moment to himself when hes frustrated. He puts himself in a quiet timeout and then rejoins his class or continues his work. Honestly i see sugar is the worst problem. I dont know why but with the right restrictions he seems to do well everyday. If you cant figure out what causes the behavior problems, its good to try a different routine like every week or 2 and keep track of what you notice different like even a diet change can impact behavior. Once you find a balance, adjuat your family life with it. do what you can to make them happy.
Hello, My 3 year old son is the same way (to the point of being annoying too). My son is compulsive, impulsive and has to touch everything in his sight! He has frequent tantrums that are extremely hard to deal with too... Hope this helps... Sonya Salinas
Ok. Well if you can pass on the word, id appreciate it. Im also looking into cephalic disorders and neural tube defects. Even microcephaly is a cephalic disorder that i have and is caused by the duplication.
No anencephaly here however my son had a large benigne brain tumor at 6months of age. It was removed but has had lasting affects in terms or behavior and speech issues.
All you moms and dads out there, I need your help. I have recently had a baby with anencephaly and the doctors refused to test him for microduplication 22q11.2. It would help my research greatly if anyone else could come forward and tell me if anyone has had a child with anencephaly. Our research is incomplete of our disorder. And with what is written so far, specialists claim that duplication is similar in many ways to deletion of our chromosome in question. Well not long ago i looked up the deletion and anencephaly did show up in a certain genetics specialists research. Please help me find answers. It may benefit our childrens health one day.
My daughter Sadie was diagnosed with this disorder when she was a year old. She is now almost 4. Sadie also was born with Spina bifida which has led to many medical issues. My husband also has the micro duplication. I have a 5 1/2 year old son and a one year old daughter who are healthy but have not been tested. Sadie has a tracheostomy so she is nonverbal but communicates with her iPad speech program and sign language. She does not walk because of her spina bifida. It is very difficult to tell if the disorder affects her but all of her medical issues so far are related to her spina bifida. She is a very smart little girl and amazes us every day. She will be starting preschool in the fall so we will be able to see if she continues to do well academically.
hi everyone. my name is Kayla. and I'd like to share my story. it started in high school when I first realized things going wrong. most of growing up, people noticed me as very strong and always doing things. but when I started growing into a young adult, I noticed I was having issues with my strength, breathing, heart rate, spasms, stomach, and my weight. but I never knew why. at the end of high school I stayed most of my time in bed sick and I believe that I may have suffered seizures. my parents never paid attention to take me to the doctors so I didn't bother asking them. they would just laugh like they did to my older sister. well since I was sick I chatted a lot online and one day met a sweet man named ray (who is now my husband and a father). we had chatted for quite a few months and when I graduated high school, he came and got me. he drove me from Pennsylvania to Alabama and the ride was terrible. he was trying to help me get better from then on. I couldn't really eat so he bought me a lot of ensure nutrition shakes. and when the shakes started helping manage my weight I began to start eating again. not much, but I was. what I hated the most were all the pains and spasms I would get. I had begun having pain since maybe 11th grade. that's when I started wearing braces on my wrists and ankles. they help a lot but I wish I didn't have to wear them for the rest of my life. well anyways, a few months went by and I started hurting a lot and felt so nauseated and spasmed worse. I went to the emergency room 2 days before my birthday. that's when I found out that me and ray were gonna have a baby. I was 6 weeks pregnant. but they told me they couldn't do much for my pains or anything. so they told me to start making appointments. as the pregnancy went on I had nausea medicine all the way through and some iron medicine and I kept getting sick from the prenatals so I took gummies and my shakes. the pregnancy helped me eat better and gain weight and things went fairly well. they were worried with all the spasms I kept having but no one could figure it out. one of the nurses came in one day and said that they seen some dysmorphic features to my face. they got me an appointment in the genetics building to find out if there are any growth problems they can find. they had to do a big test and when the results came back they told me about the disorder. they aren't sure either if every symptom I have is related but at least I knew why I was so sick. and since it was so late in the pregnancy, they said I have to bring my son back after he was born to take the test. I was worried to death if he didn't make it because of this disorder. they also said that it's 50/50 chance that our children will or will not be born with this disorder. they said if they tested him near the due date, it could possibly cause early labor so I waited. when he was born he did very well. and my motherly instinct told me he had it too. it tells me what is wrong with him even now. after a couple months we got him tested and I was right. my son's name is Dillan and he is turning 2 this month. I think the pregnancy had saved my life. I just kept getting better after that. I still have trouble keeping all my issues maintained but at least they become minor enough so I can help my son with his. he's growing up so well. he has therapy every month and we do it every day together. I have to watch what products I use for him. he shows most of the same symptoms that I have so I know how to help him. he has trouble with speech and motor functions and anxiety. he also has muscle tone issues which I hope he won't have to wear braces one day like me. if you'd like to contact me and talk sometime, you can add me on Skype. my email is email@example.com. send a message so I know who it is and tell me you're from rareshare.org.
Hi Emma, Our son is 3 years old and has 22q11.2 MicroDuplication Syndrome. We live in AZ and not one Dr. could give us any information about it. Our son was born with a cleft lip and palate, which we thought was the only deficit he had, we were wrong! He didn't cry like a normal baby, couldn't eat either, he has dysphagia, hearing deficit in left ear, articulation disorder, expressive language disorder, selective mutisim, VSD, a rare metabolic disorder, asthma, sensory processing disorder, and the list goes on... However, we did seek help from many hospitals and universities in U.S. and were turned away time again. Children's Hospital of Philadelphia is the only hospital in world who has treated more than 30 patients with this syndrome, we are going in Sept and will spend 1 week there for a series of 16 appointments with several specialists, the specialists will give us a treatment plan to bring back to AZ... I wish you and your family the best.... Salinas Family
Update The Microarray-CGH is positive for both chromosome 22q11.21 or .23 duplication and and chromosome 2p16.3 microdeletion. The latter I also have and have been told this is very rare, but do not really know anything on this. My son will have a cardiology consult because he also has Ehlers Danlos Syndrome which is a connective tissue and collegan disorder. Some of the extra reading I have done on Chromosome 22q11.2 duplication has some heart issues too so this will be good for the evaluation. He does have high triglycerides and low HDL which i am not sure may be linked partlly with with this disorder or if it is genetic in other modes. He is doing well and working fulltime now. It is still hard for him in some social situations where he does not talk much and is a bit of a wallflower. The speech issues still are there but not as significant as when he was younger. We do see the geneicist at UCLA at the end of July t go over in detail the findings of both of our genetic testing. I would like to get as much information on this disorder as i can before his cardiology consult on heart and cardiovascular issues to look for or be aware of that may be there or develop as he gets older. Also I want to know if there are others with children around my sons age and the experience of childhood to adolescence to see if similar in any way. Thanks Christina firstname.lastname@example.org is my email if anyone wants to share in more detail. Any and all information will be beneficial.
I recently joined a facebook group dedicated to 22q11.2 duplication. It is a great way to connect and stay in touch with other families affected by this genetic condition.
Thank you for your thoughts. It is a very difficult balance between doing what is right for your child and to being used as part of an experiment. I have hopes that although they cannot treat his condition, they might be able to treat some of the symptoms and make his and our lives more bearable. That is one of the reasons I trudge on. Currently hope to treat his sleeping issues and perhaps repair his ear. After our last treatment with 3 sets of antibiotics I no longer question if I should continue to fight infections or fix the ear. Antibiotics screw up his entire system. They make him hostile, angry and even more impulsive. Life like that cannot continue so we go back to fighting. Good luck to your family at Mayo. I hope that they can help. If I decide to go that route I might try Duke or CHOP. I am just not there yet. Stephanie
Hello Stephanie, I share in your fears.Our son Alex is 3 years old and has had 8 surgeries as well. He was born with a cleft lip/palate, hearing loss in left ear, dysphagia, asthma, sensory processing disorder, low toned, articulation disorder, expressive language disorder, born with a VSD, sees a neurologist for behavior issues, sees a developmental pediatrician for cognitive issues, sees a ent for velopharyngeal insufficiency, still has feeding difficulties, nasal regurgitation, central sleep apnea, 5th finger clinodactyly, webbed eyes and the list goes on. We have researched this syndrome (there really isn't any literature on this syndrome) and have found the Mayo Clinic in Minnesota, Dr. Noralane Lindor in Genetics. We have sent all of his medical records, blood tests and xrays to them and they are formulating an appointment for Alex to see all of their specialists and come up with a treatment plan. The doctors in AZ are very reluctant to order MRI's and additional tests since they are unfamiliar with 22q11.2 Microduplication Syndrome.... We have often said we are not comfortable with Alex becoming a lab mouse, however we want others diagnosed to have more information than we do... I wish your family the best... The Salinas Family
I mentioned this group in several of my posts. Here is a link to the last newsletter which came out in March. It's focus was on the microduplication. Hope this helps! Stephanie http://groups. yahoo.com/ group/c22cnews/ files/C22C% 20Newsletters/ issue%2045% 2C%20March% 202010.pdf
Jo, My name is Stephanie and I have two children with the duplication. They are 11 and 15 and both were diagnosed about two years ago. My son, the 11 year old, is much more severe than my daughter. If you look through old profile posts you can find more of our details. Things can be overwhelming. Even two years out I still get surprises. My main reason for writing to you is to tell you that in my experience, this Rareshare group is not very active. If you are looking for support and answers to your questions, you are much better off going to www.c22c.org. From there you can look up specifics on the duplication and become a member in both the regular group and/or the duplication group. It is a yahoo group, email@example.com. Feel free to ask me specifics or check out the website I listed and see what you think from there. Good Luck- Stephanie
My name is Jo. I just found out at the end of January that my oldest child (Graham age 6) has Microduplication 22q11.2 Syndrome. This answers a LOT of questions I have had for the last 6 years. He was born with congenital heart disease and had to have open heart surgery at age 14 months to save his life. He is developmentally delayed and still continues to have residual delays despite intensive therapies for the last 4+ years. I came here looking for others who are affected by this problem because everything I have read says how rare it is. It is a little overwhelming to say the least.
Have you tried the Yahoo group or the Facebook group? I don't usually remember to come on here & check messages. My daughter is 18 mos. & in about the same place developmentally as your son. Feel free to email me at kimfuelling @ yahoo.com
I have 2 children with the microduplication. Their father is the carrier. My son who is 10 has more symptoms than my daughter who is 14. Both had bad reflux and were late walkers. I do not recall any problems with sitting. My son was also a late talker and needed speech therapy. His speech is fine now. He does have significant learning issues and his psychiatrist says he is probably 2-3 years behind both cognitively and socially. He is ADHD, has processing issues, sensory issues and fights bouts of depression. If you have not had a chance, check out the yahoo group 22c. Lots of members with lots of info. However I will warn you that it can be overwhelming. There are kids with major issues such as g-tubes, etc but also some with mild symptoms. Treatment wise CHOP in Philly is the place to be. Hope this helps. Please let me know if you have any other questions. Good Luck! Stephanie
Lucca is my 18 month lil guy... When he was born he was diganosed with severe GERD (i.e. reflux) and had it really bad until he was around 14 months old. He has very low muscle tone and didn't sit unattened until after he was a year old. He still isn't crawling/walking/talking at 18 months. He is also delayed significanty with his fine motor/gross skills and coginitvely as well. We just found out through bloodwork that he has a defect on Chromosome 22 and are having to see a genetic doctor to find out more I guess.. They are also making my husband and I get tested to see if we carry the gene. Are there any other babies out there like this?? If so I would love to hear from you moms.. I feel so alone because no one around me is experiencing the things we are and I know they don't really understand how I feel..
my son diagnosed october last year we live scotland in the united kingdom we feel like nobody can help us here because they know very little about it. if any body can help me with any information or share there story i would be very grateful my email is firstname.lastname@example.org
hi everyone, there is a yahoo group set up recently for folks with 22q11.2dup. http://health.groups.yahoo.com/group/22qduplication/ we are collecting information and making a table of parent observations and medical diagnosis/conditions that affect folk with this duplication. you can see the table in the file section of the yahoo group. you can join the group to contribute info, or you can email me. i have a 20mth old boy who was diagnosed with the dup when he was about 15mths old. motor/speech delay, heart condition, eczema, lots of issues... come over and join us - there are about 24 members of the group now - some of whom are genetics professionals so it's a place to spread news about the condition!
|22q11.2dup Yahoo Group||
22q11.2dup Yahoo Group - parents, affected individuals, and involved professionals.
|22q11.2 dup Facebook Group||
22q11.2 dup Facebook Group
|Chromosome 22 Central||
Support for all Chromosome 22 Related Disorders
|Chromosome 22 Central original website||
A page from c22c.org that gives an overview of current findings about 22q11.2 duplication.
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Created by emmie79 | Last updated 8 Jun 2013, 06:33 PM
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