Chromosome 4q Deletion Syndrome
What is Chromosome 4q Deletion Syndrome?
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“interstitial”) or at the end (“terminal”), and have varying effects.
The severity of phenotypic/clinical characteristics depends upon the site of chromosomal deletion and quantity of chromatin lost. 4q chromosomal loss is often associated with intellectual disability (ID), craniofacial dysmorphism, rotated or low-set ears, cleft palate (CP), micrognathia, congenital heart defects (CHD), craniofacial, skeletal and digital abnormalities, and occasionally, autism spectrum disorder (ASD), behavioural disorders, and developmental delay.
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“interstitial”) or at the end (“terminal”), and have varying effects.
The severity of phenotypic/clinical characteristics depends upon the site of chromosomal deletion and quantity of chromatin lost. 4q chromosomal loss is often associated with intellectual disability (ID), craniofacial dysmorphism, rotated or low-set ears, cleft palate (CP), micrognathia, congenital heart defects (CHD), craniofacial, skeletal and digital abnormalities, and occasionally, autism spectrum disorder (ASD), behavioural disorders, and developmental delay.
Terminal deletions of chromosome 4q are a rare event with an approximate incidence of 1 in 100,000. Accurate prevalence information for interstitial deletion is currently unavailable.
Most 4 q deletions are "de novo", i.e. happening randomly near the time of first cell division after conception. A small percentage of cases are inherited, and for reasons not fully understood, normally functioning parents may have severely affected children, either because they are lacking a translocated piece, or because of environmental issues during gestation or early childhood.
There are many symptoms and characteristics that affect people with Chromosome 4q Deletion Syndrome. Low muscle tone is very common, as are gastrointestinal reflux, hearing issues, vision issues, large head, small feet, turned in pinkies, flat bridge of nose, slight epicanthic folds, low set rotated ears, "funny" feet (they bend in a strange place or have overlapping toes or are particularly flat or rocker-bottom). Short limbs compared to torso size are also not unusual, short wide hands and feet are also common.
| Name | Description |
|---|---|
| Abnormalities of the hands and feet | Hands and feet may be shorter and wider than normal, "tiny feet" are very common. Toes may bend at funny places (the second joint bending down for example) or overlap. |
| Growth deficiency after birth | Reflux and coordination issues may make sucking and eating difficult, and even fully nourished children may not grow very well on a normal diet. Breastfeeding children with 4q deletions is very challenging but has been done, bottlefeeding is not generally much easier. |
| Structural heart defects | Heart defects appear to be very dependent on the specific genes involved in the deletion. For example, most children with (del)4q21.1-21.3 do not have heart issues. |
| Malformations of the skull and facial region | Large head, craniostenosis, wide set eyes, small facial features, distinctive nose (wide, flat, high bridge), thin lips, small or receding chin. |
| Hypotonia and ataxia | Low muscle tone and poor muscle control due to an error in signaling between the brain and the muscle can contribute to global delays. |
Most often dysmorphic features will prompt a pediatrician or other doctor to order genetic testing. Some children are diagnosed at or near birth, others are diagnosed years later. Most children with 4qdeletion look "mostly" normal to the casual observer, the markers are a little subtle. It is not possible to determine by looking at someone whether they have 4q deletion syndrome, but visual appearance may be just different enough to prompt doctors to order tests.
Most treatments are symptomatic, but it is important that all children with 4q deletion syndrome have testing done for metabolic abnormalities. Many children (even those without a frank deficiency) will benefit from use of Coenzyme Q10 (doses range from 20 mg/kg to 5 mg/kg depending on response and type of supplementation.) Other treatments that have been helpful include Carnitine (For a child with a test result showing very low carnitine) and R-Lipoic-Acid (for any child with "metabolic symptoms" such as low tone). Multivitamin supplementation may be helpful to many. Some children with 4q deletions show signs of reflux, treatment of that may help growth issues. CoQ10 seems to help both reflux and growth issues in some children. Some children also show symptoms of problems with citric acid, it is suspected that this may be due to problems with the Kreb's Cycle. Restricted citric acid diets have been helpful for some children. Some common foods which include citrates are: Most infant formulas. Most multivitamins. The obvious (citrus foods) Oral medications (topical ibuprofen is one alternative, tylenol suppositories are another for pain meds. Watch carefully for inhaled medications, there may be idiosyncratic reactions to epinephrine due to the citrates use to buffer it.) Symptoms of citrate problems include severe rashes, breathing issues (following inhaled citrate). It is inadvisable to restrict diet without evidence of a problem, but if your child is having issues with diaper rash that won't respond to treatment, do consider citrates as a culprit. This may also explain problems post surgery, as most surgeries involve use of oral medications that contain citrates for flavor.
The best source of information on prognosis comes from rarechromo.org's member's pamplet section, and Dr. Strehle's research paper (which can be found online through google or in the files section of the yahoo group). Those documents combined with personal experience and talking to other families are the background for the following: In general, delays are endemic, in many children, most even, receptive language is better than expressive, and children may never have much functional expressive language. Early sign language and speech therapy, plus alternative communication methods may mitigate this somewhat, but oral motor skill issues combined with a fundamentally different brain process mean that language is a challenge for most children, and "lost language" even more of a problem. Some children may develop vocabulary and lose it, often learning and losing the same words over and over again. The "official" research is pretty grim, citing a 70% mortality by age two. In our support group, we've seen two deaths out of approximately 80 families, both children who died were (del) 4q21.1-21.3. However, there are at least 5 other children with this deletion who are currently healthy, and the cause of deaths were not similar for both children. In any event, the death rate, though tragic, appears to be lower, not absent, but lower for our current families than the (somewhat out of date) research would indicate. Prognosis is highly variable. We see kids who are just a little delayed, but go to a mainstream school program and learn to talk and walk just a little behind schedule. More typical seems to be to crawl sometime after the first year, walk sometime between age 2 and age 5. Some children do not sit up, crawl or walk until much older. Most parents of older children (teens and young adults) report puberty being especially traumatic, the communications issues become very frustrating then and acting out may require some medication to control behavior according to most sources. Autism is often diagnosed in kids with 4q deletion, there is new research indicating there may be a gene that causes autism in girls on the long arm of the fourth chromosome. Autistic symptoms may be atypical, but are very common. We are told that most children with 4q deletions will require lifelong help and support. All that said, they seem to be particularly charming and engaging children, all behavior issues aside, and we parents on the yahoo group have dubbed our kids the "4 q-ties" because they are so darned cute.
| Name | Description |
|---|---|
| Amy | Love them, enjoy them. . . they are always reminding you of the real meaning of life!! |
| Jenrose | Supplements (CoQ10 and R-lipoic acid especially, but also including Omega 3 fatty acids and multivitamin) seem to have made a huge difference in my daughter's energy level and her attempts to communicate. They are not a cure, but they sure do make a big difference. Melatonin helps us with sleep issues, we use a very small does (250 micrograms!). We make use of all early intervention help available. |
| Rebecca | Be patient and always let them know what is going to happen ahead of time. Focus on their strengths and celebrate these. Our daughter has motor planning issues so she requires us to physically help her to do new movements/tasks. After a couple of assisted efforts she is then able to do it independently. Learning through observation does not really work for her. Provide them with opportunities to develop independence. Our little girl is showing us she is much more capable than we give her credit for. Place them in a school system that focuses on and promotes social/emotional development over everything else. Our girl attends a Montessori school and is thriving! At 4 and a half she becoming quite the independent little miss! :) Love, love, love them :) |
| Rebecca | Be patient and always let them know what is going to happen ahead of time. Focus on their strengths and celebrate these. Our daughter has motor planning issues so she requires us to physically help her to do new movements/tasks. After a couple of assisted efforts she is then able to do it independently. Learning through observation does not really work for her. Provide them with opportunities to develop independence. Our little girl is showing us she is much more capable than we give her credit for. Place them in a school system that focuses on and promotes social/emotional development over everything else. Our girl attends a Montessori school and is thriving! At 4 and a half she becoming quite the independent little miss! :) Love, love, love them :) |
Last updated 20 Apr 2024, 12:07 PM
20 Apr 2024, 12:07 PM
Good afternoon, my name is Tatyana, my son has a deletion of chromosome 4, please help me get into the group on Facebook. I submitted an application, but I was not added to the group. Thank you in advance! My profile https://www.facebook.com/profile.php?id=100088982920255
26 Dec 2016, 07:37 PM
https://www.facebook.com/profile.php?id=100011624465153 Bela'rt artes em papel
Last updated 20 Apr 2024, 12:02 PM
20 Apr 2024, 12:02 PM
Good afternoon my name is Tatyana, my son has a deletion of chromosome 4, please help me get into the Facebook group. I sent a request, but was not added to the group. Thank you in advance!
My profile https://www.facebook.com/profile.php?id=100088982920255
20 Oct 2021, 05:22 AM
My daughter, Shiny, has a 4q 21.1-21.3 deletion. We use a lot of supplements with her, and you should look into possibly doing them for your child. I worked up a dosing calculator based on what worked for her at given weights. For an infant, powdered CoQ10 from Epic4health and liquid R-lipoic acid would be extremely important. The amounts would be small, but the potential for help is great, because it can help with energy, coordination, muscle function, etc. https://jenrose.com/shinys-meds/ is the calculator, you can enter weight in pounds to get suggested amounts. With every supplement, I had the following procedure:
1. Research: Is there a risk to giving the supplement? What's the logic behind it? So for example, CoQ10, the rationale is that many kids with deletions on 4q21 have an absent COQ2 gene which can affect CoQ10 production. Sometimes merely having a nearby break can be enough to cause problems, there's also a 4q34 gene involving CoQ10 production. CoQ10 is quite safe, not toxic, with few side effects. We found that the dose was important, too high didn't help any better than just right, too low and symptoms which disappeared at the right dose would come back. If she grew, we would see symptoms come back until we raised the dose appropriately. Another example. R-lipoic acid can cause hyperactivity in some children or at too-high doses, but in the very low doses our kids need, it's very protective and helpful and not toxic. We started with very low doses, and worked up to the recommended dosing on the bottle. Even very low doses had profound benefits, but quality was key. High quality supplements work better and have less side effects. I ONLY recommend Geronova Ka-Rala 10, which is liquid and extremely well absorbed. We saw language increases at 1/5 her eventual dose, within minutes.
2. Trial: Give the supplement. Observe changes. IF no changes, continue for set period of time (1-4 weeks depending on how quickly one would expect to see results. CoQ10 can give results in a few days to a month, if no benefit at that point, check if your brand is recommended.) If side effects (behaviors, mood alterations, etc.) stop the trial or reduce the dose.
3. Withdraw. If the supplement appears to have been beneficial, after 2-3 months on the supplement, withdraw it temporarily. OBSERVE. CoQ10 takes a few days to wear out of the system (but some effects can be seen pretty quickly), you might observe less talking or less energy or a more disordered eating pattern or sleeping pattern.
4. Put the child back on the supplement. See if it helps again. If so, keep them on it.
Not every supplement helps every child. There may be other supplements that may help that didn't work for us and are not on the list. Talking to a metabolics specialist may be helpful (or not). Doctors are often loathe to recommend supplements or treatments which don't have large studies behind them. There aren't enough of our kids for large studies. I only tested and trialed low risk, high potential benefit supplements. Her current regimen includes CoQ10, R-lipoic acid, b-vitamins, magnesium, ascorbic acid (we avoid citrates, so she needs a C supplement. Her issue is with citric acid, not other acids.) Also sunflower lecithin (helps neurotransmitter production and mood), Vitamin D because we live in Oregon, and at bedtime, melatonin. Once she hit puberty we added skullcap and valerian at bedtime for sleep because she wasn't sleeping. Like at all.
3 Mar 2019, 07:16 PM
Hi,
My son is 6.5 years old and has 4q 21.21.21.22 deletion, he looks quite similar to your son I think! are you on the facebook 4q deletion group? thats is where I meet many other parents and the 4q21 kids seem to have very simialr issues and I think look quite simialr!
Last updated 7 Feb 2020, 08:07 PM
7 Feb 2020, 08:07 PM
So this is an old thread but my son is 8 and has the 4q13.3 deletion. He too is short statured, and was "tiny" up until age 7 when he went from no appetite to an endless one. He has a mild-moderate intelicteul disability and likely autism, though he doesn't technically meet that criteria solely due to his incredibly social nature (albeit not age appropriately social). He struggles with learning, has hypotonia, microecephaly, and assymetry in arms and facial. He suffers from some hearing loss, due to his overtly small ear canals being too small to drain properly. He has had an eye surgery for exotropia (sort of like a lazy eye only the eye drifts outward rather than inward), surgery was fairly successful but did not completely eliminate that. He has some agrression and behavior issues and is seeing an ABA therapist 5 days a week (talk about life and sanity savers!). He also had a bone age study and was revealed that he is about 1-1.5 years behind his chronological age. Overall he is a wonderful, loving child, filled with lots and lots of "qwirks". You are only the 2nd other person I've ever been able to find with this exact same deletion.
26 May 2016, 12:12 AM
Hi! Welcome to the board! I am the parent of an 11-yr old boy with a break at 4q34.3-35.2. Tom wasn't diagnosed until he was 7-1/2yrs old as his symptomology is quite mild. Tom's primary issues relate to global hypotonia which impact his bowels most severely. He also has paralytic ileus and mega colon. Its terrific that you have got your son into a mainstream school. We chose to homeschool Tom after it became apparent that the schools were unwilling to deal with his bowel issues. I have just recently joined the 4q Facebook page and found that really useful as well. Best wishes for a great summer.
24 May 2016, 09:16 PM
Hello. Just discovered this group and wanted to share our experience and maybe connect with other parents of C4qDS kids. We have a 5 year old with a deletion on 4q13.3 and has lost 2 genes known to be associated with causing genetic diseases, however he has not shown any signs that he is affected by it. He is a very happy and healthy child with no visible 'problems' other than his small stature. He weighs less than 35lbs and is quite small. A recent bone-age test measured him as 3 years. He has been diagnosed with Global Developmental Delay. This past year was his first year in school (Kindergarten), which he took to surprisingly well. He had had trouble integrating with pre-school. Although he has some trouble learning and is behind the other children, he has been progressing steadily. Interestingly, there are some areas where he shows exceptional skills. His fine-motor skills are very acute and he is developing exceptional artistic abilities. His deletion may also contribute to some other quirks. When concentrating, or enjoying an activity he will make a (sometimes very loud) droning noise, almost like a humm, or Eeee sound. He also has a speech impediment that can make it difficult to understand him sometimes, although this is improving. And when he was younger he had some teeth problems and had to have caps put on a couple of his teeth. Breast feeding was likely a contributor to his teeth problems though. Also, he is having difficulty with toilet training and still wears a diaper or pullup throughout the day. He's generally healthy, other than the occasional cold or flu, which he seems slightly more prone to. In most ways he is just like any other kid, just developing much slower. Compared to his older brother, it is taking him about twice as long to hit milestones. Once he does hit a milestone though, he usually grasps it quite quickly. My wife and I have both had genetic testing to see if there is a connection, but both of us were 'normal'. We are pretty lucky to have such a great kid, who is so bright, loving and imaginative. With so little information on C4qDS it's hard to know what to expect for his future. So far so good, for our little guy, but I would love to hear from parents who have similar experiences. To my knowledge there have not been any other documented cases of his specific deletion (4q13.3) so it would be interesting to find someone else to see if there are any similarities between them.
Last updated 22 Jun 2019, 02:52 PM
22 Jun 2019, 02:51 PM
Hello my son is 12 and diagnosed at the age of almost 4yrs of age. I'm on here to let you know about a Facebook group - 4q del support. There are almost over 400 on this group page. Just wanted to let you know if you have a 4qtie!
Sherri
Last updated 12 May 2019, 10:00 PM
12 May 2019, 10:00 PM
Hi, i'm don't speak english.
Moj 4 letni syn ma delecje 4q23.8
27 Jun 2018, 05:25 AM
We recently found out that my son has an interstitial deletion on 4q28.3
Anyone else have the same?
Last updated 20 Jun 2018, 11:54 PM
20 Jun 2018, 11:53 PM
Hello! My name is Angel and I collaborate with Mendelian, a company devoted to help patients with undiagnosed rare diseases to get the right diagnosis.
We are developing a new testing service for undiagnosed patients and I would like to hear from the community if you find it useful and how we can improve it. You can learn more about it on our site:
https://www.mendelian.co
Last updated 15 Jun 2018, 09:00 PM
15 Jun 2018, 09:00 PM
Hi,
My daughter (13 months old) was diagnosed with 4q 13.1-21.1 deletion last week. Unfortunatelly, nobody even the doctors provided us any source or information about this disorder. I have been searching since then and here I am. I know even with the same deletion it may create different problems. So far my baby has developmental delays, low muscle tone and growth delay. Is there anyone out there that would like to share some information and their stories? I am not an optimistic person but I love my baby so much and I would like to help her as much as I can.
Last updated 29 Dec 2016, 10:04 AM
29 Dec 2016, 10:04 AM
Olá, tudo bem? queria saber se você pode me passar seu e-mail, preciso muito conhecer mais sobre a síndrome 4q33, meu e-mail: LINEW1984@gmail.com
27 Dec 2016, 01:35 PM
eu quero sim, desde já agradeço. Meu email: LINEW1984@gmail.com
26 Dec 2016, 09:33 PM
Olá, meu nome é Esperança. Eu moro na Georgia, USA. Não sou fluente em português. Esta é parte da mensagem é de um tradutor. Eu sei saudações básicas e como me apresentar. Vou ajudá-lo a aprender mais sobre a síndrome. Se você quiser conversar podemos trocar e-mails se você quiser.
Last updated 17 Nov 2016, 09:21 AM
17 Nov 2016, 09:21 AM
Does anyone have a child with 4q 14-16.1 deletion? Love also to hear any advice you have just in general :) All the best
Chromosome 4q Deletion Syndrome Podcast Series: (08/10/2015)
Publication date: 10 Aug 2015
Community: Chromosome 4q Deletion Syndrome
Featuring Dr Scott Hickey (Nationwide Childrens Hospital, Columbus, OH), Dr Eugene Strehle (North Tyneside General Hospital & Newcastle University, North Shields, UK), Ms Prisca Middlemiss (Unique, The Rare Chromo Disorder Group, Oxted, Surrey, UK) and Dr Jimmy Lin (RGI)
Chromosome 4q Deletion Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)
Publication date: 27 Feb 2017
Community: Chromosome 4q Deletion Syndrome
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. The severity of the phenotypic effect of the deletion depends on the size and the location of the deletion on chromosome 4q. This disease is prevalent in around 1 in every 100,000 people. The ebook is a good place to look for some information about Chromosome 4q Deletion.
| Title | Description | Date | Link |
|---|---|---|---|
| 4q Deletions Yahoo Group |
This is the central meeting point online for families dealing with issues around 4q deletions. We get new members every month, all who are affected one way or another by 4q deletion issues are welcome to join, parents, siblings, doctors, therapists, extended family.
|
03/20/2017 |
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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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My son has chromosome 4 deletion (173kb deleted) within 4q24. I would love to know more about this. Although, we found out in July 2018, he was so sick that I did not look into it as I should have....
My name is Crystal, I am a single Fulltime Mom to a wonderful son with 4q13.3 deletion and his "typical" twin sister. They are 8 years old (as of 2020 when I'm typing this).
Witam, moj syn ma delecje 4q 28.3 .
Opoznienie psychoruchowe, padaczke, niewyksztalcone cialo modzelowate, zaburzenia SI, waddy szkieletu, zaburzeniami wzrostu, obustronny niedosłuch,...
Proud Mama of William, 4q21.22 deletion. He has taught me so much about life, love, patience, and the broader special needs community!
He was diagnosed in NICU after poor infant...
I collaborate with Mendelian, a company devoted to help patients with undiagnosed rare diseases to get the right diagnosis.
Mendelian core is an AI powered rare disease search engine, built...
I have a 3 1/2 yr old daughter that has just been diagnosed with 4q 23-24 deletion. We're only just beginning to learn about it and would welcome any advice from any other parents with...
Our son was born in 2012 and from the get go we knew he wasn’t developing quite the same as his three older sisters. The next 5 1/2 years we spent taking all kinds of...
Deven was diagnosed by...
sou mae de uma crianca que possui delecao do braco longo do cromossomo 4, 4q33, meu email: LINEW1984@GMAIL.COM
I am mum to Daisy who is 4 and has a chromosome deletion, 4q23q24. Would be interested in finding out more information or anyone who has the same or similar deletion
His issues include Tetralogy of Fallot, Inguinal...
Michelle needs to be out all the time
insists on "talking" to everyone especially babies despite the fact that her language is extremely limited and...
I have a daughter who is 10.5 and in 4th grade, with a 4Q24 deletion: 46XXarr.4q24(103,105, 284-103,105,059) and a 12 year old son who shows no trait, and found out I myself carry the 4Q24...
Evie failed to thrive but Gp and health visitors...
I am the mother of Jessica. She was born in Feb 2011 with Pierre Robin Sequence. Her Chromosome tests have showed up a terminal deletion at the bottom end of the long arm of Chromosome...
With an amazing (and ever growing) support team she is now reading and writing, attending normal school and (as they...
nterstitial deletion of the long arm of chromosome 4
help the information
46 XX del(4) q25q31
email me:...
My name is Alice and I come from Germany. I have an 8-year-old daughter Leonie. After birth, the doctors have told us that they have a chromosomal defect [46XX, del (4) (q34.2)]. It is...
I have 2 stepsons. One aged 28 years & one aged 24 years.
One son of 21 years who I have...
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