Microduplication 22q11.2 Syndrome
What is Microduplication 22q11.2 Syndrome?
Duplication of genes on chromosome location 22q11.2 causes a genomic disease known as microduplication 22q11.2 syndrome. The normal human genome has 23 chromosomes, 22 autosomes and 1 sex chromosome, each composed of pairs with one inherited from each parent in the offspring. The chromosomes themselves are composed of densely wound DNA that contains all of the genetic information for the human body. Geneticists refer to locations within the chromosomes to better find individual genes by the cytogenetic location. The cytogenetic location to denote gene location can be broken down as follows:
1. An initial number that refers to the chromosome, from 1-22 autosomes and either X or Y for the sex chromosomes.
2. A letter that refers to the section or arm of that chromosome, p is short and q is long.
3. Another number that matches the band, either light or dark, on a particular pattern of stained bands of the chromosome.
4. Decimal points indicate sub-bands within either a light or dark area.
In the case of this syndrome, the affected gene lies on chromosome 22, the long arm (q), the 11th band, and a second sub-band within the 11th banding pattern.
Microduplication 22q11.2 syndrome depends on the nature of changes to chromosome 22 such as rearrangement, deletion, and duplication. This can happen in chromosomes especially where there are many low copy repeats (LCRs) of genes around a gene of interest. These low copy repeats become targets for non-allelic homologous recombination. Recombination refers to the rearrangement of genes within a chromosome due to crossing over or the artificial joining of two segments together. In nature, this recombination of regions of high repetition is important for increasing genetic diversity. However, this can cause duplication of genes to occur leading to genomic diseases. In chromosome 22, eight low copy repeats occurring in the region 22q11.2-22q11.4 can result in deletion of important genes (DiGeorge Velocardiofacial syndrome (DGS/VCFS)) or duplication of genes (microduplication 22q11.2).
Genomic diseases affect a significant portion of a person’s genome, not just single genes as in genetic diseases. One well known example of a genomic disease is Down Syndrome (Trisomy 21) which occurs when an individual is born with 3 copies of chromosome 21 instead of 2. The effects of genomic changes are very different depending on the chromosome location and nature of the change, and there is still a lot to learn about how rearrangement, duplication, and deletion affects human development.
Synonyms
- 22q11.2 duplication
- Chromosome 22q11.2 duplication syndrome
- Chromosome 22q11.2 microduplication syndrome
Duplication of genes on chromosome location 22q11.2 causes a genomic disease known as microduplication 22q11.2 syndrome. The normal human genome has 23 chromosomes, 22 autosomes and 1 sex chromosome, each composed of pairs with one inherited from each parent in the offspring. The chromosomes themselves are composed of densely wound DNA that contains all of the genetic information for the human body. Geneticists refer to locations within the chromosomes to better find individual genes by the cytogenetic location. The cytogenetic location to denote gene location can be broken down as follows:
1. An initial number that refers to the chromosome, from 1-22 autosomes and either X or Y for the sex chromosomes.
2. A letter that refers to the section or arm of that chromosome, p is short and q is long.
3. Another number that matches the band, either light or dark, on a particular pattern of stained bands of the chromosome.
4. Decimal points indicate sub-bands within either a light or dark area.
In the case of this syndrome, the affected gene lies on chromosome 22, the long arm (q), the 11th band, and a second sub-band within the 11th banding pattern.
Microduplication 22q11.2 syndrome depends on the nature of changes to chromosome 22 such as rearrangement, deletion, and duplication. This can happen in chromosomes especially where there are many low copy repeats (LCRs) of genes around a gene of interest. These low copy repeats become targets for non-allelic homologous recombination. Recombination refers to the rearrangement of genes within a chromosome due to crossing over or the artificial joining of two segments together. In nature, this recombination of regions of high repetition is important for increasing genetic diversity. However, this can cause duplication of genes to occur leading to genomic diseases. In chromosome 22, eight low copy repeats occurring in the region 22q11.2-22q11.4 can result in deletion of important genes (DiGeorge Velocardiofacial syndrome (DGS/VCFS)) or duplication of genes (microduplication 22q11.2).
Genomic diseases affect a significant portion of a person’s genome, not just single genes as in genetic diseases. One well known example of a genomic disease is Down Syndrome (Trisomy 21) which occurs when an individual is born with 3 copies of chromosome 21 instead of 2. The effects of genomic changes are very different depending on the chromosome location and nature of the change, and there is still a lot to learn about how rearrangement, duplication, and deletion affects human development.
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.
The symptoms experienced by people with microduplication 22q11.2 syndrome are very diverse in type and severity, making this disease difficult to diagnose. There are very few reported cases (only around 60), and it is likely that many more individuals have this genomic alteration without any discernible abnormalities. Of the approximately 60 reported cases, about 70% result from inheritance from one or both parents. About 2.3% of patients who are diagnosed with DiGeorge Velocardiofacial syndrome (DGS/VCFS) due to a deletion in the chromosome 22q11.2 region also have microduplications in the region 22q11.2.
| Name | Abbreviation |
|---|---|
| 22q11.2 duplication | 22q11.2 duplication |
| Chromosome 22q11.2 duplication syndrome | 22q11.2 duplication |
| Chromosome 22q11.2 microduplication syndrome | 22q11.2 duplication |
As the name suggests, microduplication 22q11.2 syndrome is the result of duplicating a region of chromosome 22. In most disease cases, about 40 genes in a 3 Mb (million DNA base pair) region are duplicated. There are cases where the duplicated region is as large as 4Mb-6Mb. One gene in this region that has been implicated in causing symptoms in individuals with DiGeorge Velocardiofacial syndrome (DGS/VCFS) is TBX1. Its deletion in this syndrome affects the expression of the protein T-box 1, which is important during embryonic development. It is hypothesized that deletion of TBX1 in DGS/VCFS or duplication in microduplication 22q11.2 syndrome affects development of various organs and tissues in the embryo and thus affects patients differently.
Microduplication of genes occurs spontaneously within a person’s chromosomes to protect against a loss of genetic information. Areas of low copy repeats (LCRs) can stimulate non-allelic homologous recombination (NAHR) to help keep the genome robust. In the case of microduplication 22q11.2 syndrome, the same genes are copied over and over, causing overexpression of certain proteins affecting development. This pattern of duplication can be inherited from one parent (autosomal dominant inheritance pattern), where a mutated gene need only be on one chromosome to have an effect on the offspring. In other cases, microduplication 22q11.2 may occur spontaneously in a chromosome due to the high number of LCRs in this region.
The symptoms of microduplication 22q11.2 syndrome vary in type and severity, due to differences in the nature of the duplication from person to person. In some cases, the duplicated region may compensate for a deleted genomic region, which may be a cause of many asymptomatic forms of this disorder. There is currently no known link between certain duplications or the degree of duplication and the resulting symptoms experienced by an individual. In cases that have been diagnosed, certain symptoms can be present through early development and into adolescence. This can include physical defects, such as heart defects, cleft palate, speech difficulties due to malformations in the nasal passage, urogenital abnormalities, delayed development and speech, behavioral abnormalities, mildly distorted features, hearing loss, and delay in growth. Individuals with microduplication 22q11.2 syndrome may also have mild to more severe learning disabilities.
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:
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Growth delay – short stature
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Motor delay – weak muscle tone
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cognitive impairment – learning disabilities
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Behavioral problems – obsessive compulsive behavior or aggression
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Tourette’s syndrome (TS) or tics – TS is a type of tic or movement disorder
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Low weight – can require a feeding tube
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Microcephaly – abnormally small head
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Heart defects or diseases
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Ear defects or diseases – with or without hearing loss
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Urinary tract or kidney defects or diseases
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Velopharyngeal insufficiency – body’s inability to close the area between the mouth and nose which impairs speech, eating, and breathing
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Cleft palate – roof of the mouth opens into the nose which impairs speech, eating, hearing, and causes ear infections
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Widely spaced eyes with down-slanting eye lids and high placement of eyebrows
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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
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Asplenia – spleen does not function properly
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Intestinal malrotation – abnormal position of intestinal organs
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Retrognathia – abnormal position of jaw
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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.
As this is a genomic disorder, microduplication 22q11.2 can only be diagnosed after examining a person’s genome, specifically at sites of chromosome 22. In order to better understand the nature of genomic testing, a basic knowledge of DNA structure and function is described. Everyone’s DNA is made up of four building blocks known as nucleotides. These are adenine (A), thymine (T), cytosine (C), and guanine (G). The building blocks pair up (A with T; C with G) and form a double helix with complementary strands, meaning that both strands contain the same information just the opposite nucleotide as the other strand in that location. Geneticists can identify genes by the pattern of A, T, C, and G in a person’s genome, and use this knowledge to perform genetic tests that look for the presence, absence, and mutations of these genes. This genetic testing of the individual often includes parents as well to determine the hereditary pattern of a disorder within a family. Common genetic tests for microduplication 22q11.2 that are offered to individuals are described below:
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Interphase fluorescence in situ hybridization (FISH) - This method of DNA detection uses the properties of DNA bases that bind to one complementary base – A to T and C to G – to search for particular or unique sequences. A “probe” of a short strand of DNA can be created to recognize and bind to a complementary strand in a person’s chromosomal DNA. This probe can be designed to include a fluorescent tag that allows it to be easily detected once it binds to a complementary strand of DNA within the chromosome. In the case of microduplication 22q11.2 syndrome detection, FISH would result in multiple sites of the same DNA indicating that certain regions of this chromosome had been repeated.
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PCR-based multiplex ligation-dependent probe amplification (MLPA) - This technique also uses the qualities of DNA to search for and quantify certain genes and sequences within a person’s genome. Pieces of DNA, known as oligonucleotides because they are made up of multiple nucleotides (A, T, C, G), are designed with different lengths and fluorescent probes. Once the DNA has been replicated with these probes, the resulting pieces are fluorescently labeled. The resulting intensity of this fluorescence indicates how many genes with this sequence are present within the chromosome. If this quantity is higher than normal within the chromosome 22q11.2 region, this could indicate microduplication 22q11.2 syndrome.
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Whole genome screening using a-CGH (comparative genomic hybridization) - This testing technique compares the length and number of genes between two different chromosomes. By recognizing and annealing to DNA, it is able to determine copy number variations between genes within the two chromosomes. Thus, this test is very useful for detecting deletions or duplications, as is the case for individuals with DiGeorge Velocardiofacial syndrome (DGS/VCFS) and microduplication 22q11.2, respectively.
The NIH website lists genetic tests available for microduplication 22q11.2 syndrome: https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=C2675369&filter=testtype:clinical
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 individuals with microduplication 22q11.2 have few to no symptoms, and may remain unaffected by this genomic disorder throughout their life. For those with congenital heart failure, early diagnosis and treatment as well as maintaining a healthy lifestyle can lead to a longer lifespan. Facial abnormalities can usually be amended with surgery to aid with speech and breathing. Individuals with learning disabilities may require more attentive teaching styles or learning environments, but will likely develop speech and learn at their own pace.
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.
A support group and facebook group has been formed by families with children diagnosed with microduplication 22q11.2 https://www.rarechromo.org/media/information/Chromosome%2022/22q11.2%20microduplications%20FTNP.pdf
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
EDELMANN L., PANDITA R.K., SPITERI E., FUNKE B., GOLDBERG R., PALANISAMY N., CHAGANTI R.S., MAGENIS E., SHPRINTZEN R.J., MORROW B.E.: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet., 1999, 8, 1157-1167.
Ensenauer, R. E. et al. Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients. Am. J. Hum. Genet. 73, (2003).
Portnoï, M. F. Microduplication 22q11.2: A new chromosomal syndrome. European Journal of Medical Genetics vol. 52 (2009).
https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome/diagnosis
https://www.chop.edu/conditions-diseases/22q112-deletion-and-duplication-syndromes
Last updated 28 Jun 2017, 07:01 PM
28 Jun 2017, 07:01 PM
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.
28 Jun 2017, 06:56 PM
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.
29 Jun 2011, 03:45 AM
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
Last updated 18 Aug 2016, 01:03 PM
18 Aug 2016, 01:03 PM
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.
17 Aug 2016, 09:13 PM
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.
16 Aug 2016, 05:28 PM
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.
Last updated 10 Jun 2013, 01:46 AM
10 Jun 2013, 01:46 AM
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.
Last updated 8 Jun 2013, 06:33 PM
8 Jun 2013, 06:33 PM
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 dragonflyblade135@hotmail.com. send a message so I know who it is and tell me you're from rareshare.org.
29 Jun 2011, 04:23 AM
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
27 Jun 2011, 11:24 PM
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 rightmerca@live.com is my email if anyone wants to share in more detail. Any and all information will be beneficial.
Last updated 21 Sep 2011, 06:44 AM
21 Sep 2011, 06:44 AM
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.
Last updated 6 Mar 2011, 09:57 PM
6 Mar 2011, 09:57 PM
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
27 Feb 2011, 04:22 AM
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
28 Jul 2010, 10:52 PM
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
Last updated 9 Feb 2011, 02:01 AM
9 Feb 2011, 02:01 AM
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, 22duplication@yahoogroups.com. Feel free to ask me specifics or check out the website I listed and see what you think from there. Good Luck- Stephanie
8 Feb 2011, 09:53 PM
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.
Last updated 5 Oct 2010, 04:24 PM
5 Oct 2010, 04:24 PM
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
28 Jul 2010, 09:06 PM
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
17 Jul 2010, 07:20 PM
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..
Last updated 12 Sep 2010, 06:25 PM
12 Sep 2010, 06:25 PM
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 conorlouise@yahoo.co.uk
| Title | Description | Date | Link |
|---|---|---|---|
| Chromosome 22 Central original website |
A page from c22c.org that gives an overview of current findings about 22q11.2 duplication. |
03/20/2017 | |
| Chromosome 22 Central |
Support for all Chromosome 22 Related Disorders |
03/20/2017 | |
| 22q11.2dup Yahoo Group |
22q11.2dup Yahoo Group - parents, affected individuals, and involved professionals. |
03/20/2017 | |
| 22q11.2 dup Facebook Group |
22q11.2 dup Facebook Group |
03/20/2017 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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