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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.

Acknowledgement of Chromosome 4q Deletion Syndrome has not been added yet.

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.

Synonyms for Chromosome 4q Deletion Syndrome has not been added yet.

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.

Diagnostic tests of Chromosome 4q Deletion Syndrome has not been added yet

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 :)
References of Chromosome 4q Deletion Syndrome has not been added yet.
4q 21.1 deletion Created by Amber097
Last updated 20 Oct 2021, 05:22 AM

Posted by Jenrose
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.  

Posted by Harriet Rafferty
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! 

 

Posted by haliay
28 Feb 2019, 07:22 PM

Hello! 
I have only been on Global Genes and Unique organizations and their web sites. I'm not sure how I missed Rare Share?! 
Anyway- my child is 3+ and was born with 4q21.22 micro deletion. We were told only about 48 cases worldwide! :(   Deletion was in du nouvo as both of us parents were tested. 

I still hope that there is some medical breakthrough but at this point, I only focus on 'what's next!"  We've had him in weekly PT/OT since he was 2 months old, according to the other families I've found on FB, this showed drastic improvement vs their own children. 

What's your go-to strategy? 
Thanks- Halina (MN) 

View Full Thread (2 more posts)
4q13.3 Deletion Created by Nlacroix
Last updated 7 Feb 2020, 08:07 PM

Posted by Mom2twins11
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. 

Posted by LakeLili
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.

Posted by Nlacroix
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.

4q21.22-21.23 Created by Sherri
Last updated 22 Jun 2019, 02:52 PM

Posted by Sherri
22 Jun 2019, 02:52 PM

Posted by Sherri
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

4q28.3 deletion Created by Lynn Mccoy
Last updated 12 May 2019, 10:00 PM

Posted by Delecja4q28.3
12 May 2019, 10:00 PM

Hi, i'm don't speak english.

Moj 4 letni syn ma delecje 4q23.8

Posted by Lynn Mccoy
27 Jun 2018, 05:26 AM

Posted by Lynn Mccoy
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?

We would like to know if this testing service would be helpful for you Created by Angel D. Sevilla
Last updated 20 Jun 2018, 11:54 PM

Posted by Angel D. Sevilla
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

13.1-21.1 Deletion Created by Ozgur
Last updated 15 Jun 2018, 09:00 PM

Posted by Ozgur
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.

4q33 Created by simmonshope45
Last updated 29 Dec 2016, 10:04 AM

Posted by aline
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

Posted by aline
27 Dec 2016, 01:35 PM

eu quero sim, desde já agradeço. Meu email: LINEW1984@gmail.com

Posted by simmonshope45
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.

View Full Thread (2 more posts)
4q facebook Created by MRG10810
Last updated 26 Dec 2016, 07:37 PM

Posted by aline
26 Dec 2016, 07:37 PM

https://www.facebook.com/profile.php?id=100011624465153 Bela'rt artes em papel

Posted by huchlee
26 Dec 2016, 06:34 PM

Hola Aline. cual es tu facebook? Hay varias aline costa.

Posted by aline
26 Dec 2016, 06:29 PM

olá, voce poderia me adicionar ao grupo? aline costa

View Full Thread (23 more posts)
4q 14 to 16.1 deletion Created by Lulu
Last updated 17 Nov 2016, 09:21 AM

Posted by Lulu
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

Community News Articles
Default article

Chromosome 4q Deletion Syndrome Podcast Series: (08/10/2015)

Publication date: 10 Aug 2015

Community: Chromosome 4q Deletion Syndrome

Podcast

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)


Chromosome4qdeletion

Chromosome 4q Deletion Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)

Publication date: 27 Feb 2017

Community: Chromosome 4q Deletion Syndrome

E-Book

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.


Community Resources
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

Clinical Trials


Cords registry

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.

  1. Complete the screening form.
  2. Review the informed consent.
  3. 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,...

hi I have chromosome 4q deletion

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 am the mother of a boy who has a has an approximate 240 kb loss on chromosome 4q22.2.

My son has an interstitial deletion on 4q28.3

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...

On May 8, 1990 I gave birth to my beautiful Deven. Deven was born with q 4 deletion. There,was very little known at that time and I am thrilled to find this site.

 

Deven was diagnosed by...

sou mae de uma crianca que possui delecao do braco longo do cromossomo 4, 4q33, meu email: LINEW1984@GMAIL.COM

My 15 yr old daughter has chromosome 4q deletion syndrome. 4q21.1q21.3. She's nonverbal and cannot walk but uses a wheelchair and can crawl.
I live in Ontario Canada and have two children. Our youngest is 5 and has a Chromosome 4q Deletion (4Q13.3).
Daughter diagnosed with deletion 4q13.1 at 24 months, also has leukemia diagnosed at 16 months.
I have a lovely now nine months old daughter. Se was diagnosted 4qdeletion (32.2-35.1) soon after birth. She is a sunny character who always smiles and lights up a room. She has some clear symptoms...
I have a daughter who was born in 2004. She was diagnosed with 4q deletion syndrome. At the time she was diagnosed there wasn't a whole lot of research or information for this particular genetic...
My daughter was rexentky diagnosed with a interstitial deletion of 4q25. Her doctor is trying to research it because he doesn't know the Exact effects of her deletion since it doesn't point to an...
I'm Maria... the mother of 3year-old Thanos WHO has been diagnosed with 4q21.21 chromosome deletion.. Hello to all!
I am a mom of 2 amazing little boys, Ethan (5) and Mason (23 m). Ethan is a typical 5 year old and recently started Kindergarten. Mason will be 2 in less than a month and was born with a deletion...
My son Tripp is 4 1:2 months old and has 4q deletion from 13.3-22.3. He has a gtube does not take anything orally. Has an add,delayed development can't hold his head up, plagiocephaly, and...
We live in Norway and our oldest son has a 4q deletion!
My Son Dylan Rafferty, was born with 4q deletion syndrome. He is doing well but we, like any parent wants to learn more.
I am mum to Eliza who has a 4q deletion 31-33 de novo.
I am Kirstine, mother to Jessica who was born in Feb 2011 with a cleft palate, pierre robin sequence & hypotonia. We found out in April 2011 that she has a large deletion 4q 34.1-35.2.

 

My son Ali has been diagnosed with 4q deletion band ali has 4q 31.23
My names Lizz, my daughter is Madelynn, she recently got diagnosed with 4q Deletion Syndrome at Boston Childrens Hospital Gentics. Her deletion is from 4q32.1 to 4.41. Madelynn is a very loveing,...
Hi

 

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
My son Lucas has been diagnosed with 4q34. He is nearly 3. We come from a watermelon and pumpkin farm in Kununurra, Western Australia.

 

 

His issues include Tetralogy of Fallot, Inguinal...
Mother to 11 year old boy with this syndrome.
Mother of 3 amazing girls, all of us have Ehlers Danlos as well my my middle daughter with 4q deletion. I'm new to all this, just learning and researching every chance I get
Home schooling parent of a son, PH, who was diagnosed at Sick Kids (Toronto) with 4q deletion syndrome with the break at 34.3-35.2 when he was seven-years old... and after 5-years of searching for...
Mom of many, including one little man with a partial deletion on his 4th chromosome.
My 2 year old son, Isaac, has a 4q21.22 deletion and we are trying to learn as much as we can!
Wife and SAHM mom to 2 DD and one DS. We are still searching for answers to DD2 and DS medical concerns. Looking for answers and support.
I'M the father of Isanae' Clarke an extremely cute and energetic 6yr old whom inherited from me her 4q,22q translocation. in Isanae's case , her entire 22 chromosome is normal but her 4q has a 22q...
I am a Mum of 4 and I live in New Zealand
Program Manager, Scientific Programs, RareShare

My son is 15 years old, born in 2004 with the deletion - 4q21.22-21.23. We are not carriers.

My daughter, aged 2 years 4 months has recently been diagnosed with a chromosome 4q deletion 31.3 to 32.3 and I am trying to find out as much information as I can.
My grandson has been diagnosed with this affliction and I would like to know more. This is the first step in a long process for my son and daughter-in-law.
I have Interstitial Deletion of 4q33. I have structural heart defects along with bone defects.
Im a father of four, two girls and two boys. My youngest daughter was born with Chromosome 4q Deletion Syndrome, her name is Destiny and she is 11 years old now. She is my littler angel, she came a...
Social animal

 

 

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 child with a deletion on the 4th which overlaps 4q21

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...

Mum to my lovely 4qtie Sean
My daughter Evie ( dob 28/05/09) has recently been diagnosed with 4q 24 deletion. On 11/07/12 We were still waiting for appt with genetics.

 

Evie failed to thrive but Gp and health visitors...
Hi my name is Lynn Novello and i have a 3 yr old with a chromosomal deletion and i am looking to find more information about this rare genetic disorder and would love to talk to other families who...
I am the mom of two children, Grace who is 12 and Blake, our 4Q baby who is 10. I work part time and my husband and I schedule our work around Blake's IBI and school schedule.
Archie our son (27.12.2009) has distal 4q28-31.23 de novo.

 

 

My name is Danielle and am a momma of 4 great kids. 9, 7, 5 and 4. My first two are girls and last two are boys. I work at our county special needs school with the children that are wheel chair...
I am a physical therapist. I work with both children and adults.
I am the mom of the two most beautiful and loving girls in the world! My husband is currently serving in the Air Force, and I work at my girls' school as an aide. Since my younger daughter was born...
I'm a wife, and mother of 9 amazing kids. I'm a Christian, and I love to sing to God! I enjoy blogging, Star Trek, and photography.
My son who is 3 has a 4q interstitial deletion q31.3q32.3. I have 4 other children who do not have this genetic issue.
My beautiful grandson was born with 4q 13.1 to 22.1 deletion.
Hi

 

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...
Jacksons mom. 4q33-4q34.1 del
Our son has 4q,34,1.
My son has a chromosome 4q deletion as well as Peter's Anomaly. he was a preemie. he had cornea transplants that failed then implants that worked some. sam is 7 yrs old but the size of a 2 yr old....
My niece was just born on March 17th and was diagnosed with a terminal distal 4q deletion from 32.2. Just wanted to reach out to others to see what they are dealing with.
Have a cute wee 7 year old girl (LJ) who has "micro 4q deletion".

 

 

With an amazing (and ever growing) support team she is now reading and writing, attending normal school and (as they...
Sindrome - Deleção Intersticial do braço longo do cromossomo 4

 

 

nterstitial deletion of the long arm of chromosome 4

 

 

help the information

 

 

46 XX del(4) q25q31
My son has a deletion at 4q21.22q21.23 and at 12q12
Mom to two beautiful daughters who were adoppted, founder of a support group in our hometown for families with children with all additional needs, we don't call them special our motto "All children...
I work with a charity in Australia that provides support to families with rare genetic conditions, The Association of Genetic Support of Australasia (AGSA). I would like to use this site so that I...
My son has a 4 q deletion.
-Parent of a little girl with 4q deletion
I am a pediatrician who has a special interest in children and adults with 4q deletion syndrome. I live and work in the United Kingdom.
I have a 3 year old son named Ryan . He has Chromosome 4q deletion. Ryan is missing 4q21.21-4q21.23. Ryan is 2 years behind in speech, motor,and development .I want to learn more about chromosome...
I am the mother of an infant with 4q22-24 deletion syndrome.
I am a mother of a 3 year old girl and a newborn girl. My 3 year old is a semi-normal child with just asthma, allergies, and reflux. My newborn on the other hand has numerous issues. She was born...
I'm a mom of 3. My name is Amy Franklin. My middle child, Madyson age 12, was finally diagnosed yesterday ..after a visit to the Mayo clinic! I am so happy to finally find a community for support....
Mother of a 1 month baby girl with 4q.31 deletion syndrome, want to know more about this syndrome and meet other parents that have children with this deletion.

 

 

email me:...
4q Deletion
*I have a 44year old daughter with a 4q deletion 32.2 to34.1 hopeing someone else does Her father has some sort of chromosome4 deletion but it is not known exactly he is normal unless jerk counts...
My name is Susan and I'm the grandmother of a twin boys, born June 11. One of the twins was born with a heart defect that required a BT Shunt. My daughter was told of the complication at 20 weeks...
i have a baby girl w/ 4q (4qq33) and i'm searching for information and support
i have a 12 yo daughter with deletion (interstitial)jof 4th chromosone. looking for any other parents with children similar.
Our son was born June 15, 2010. He has a 4q35.2qter deletion. If anyone knows anything about this specific deletion we would be very thankful for your information. So far our son has only been...
Mother of a daughter who was recently diagnosed with Chromosome 4q deletion.
My name is Lidia, I am the mother of Sophia. She will be three in September. At this point she has not ate food in almost a year and she will only take Pediasure. She does not walk or talk, Her...
I came to this site to meet others that are familiar with my daughter's diagnosis. My daughter will be three soon. She also had cranial problems and she had surgery in November 2009. At this point...
I am the mother of 3 children. My youngest son, Christian, was diagnosed with a 4q deletion. I am looking for other parents who have children with this deletion so that we can compare and share...
I am the mother of a 20 year old daughter who has 4q deletion syndrome.
As the parent of a child with a 4q deletion I am seeking information and to share our experience.
Our son Henry has chromosome 4q deletion at the 31.3 breakpoint. I hope to discover and learn more as well as make contact with other families who have lived with it. Since there is not a spot for...
Chromosome 4 Q arm 35.2
I have a son with 4q deletion.
My daughter Lauren has just been diagnosed with 4q deletion.
my son has 4q 31.3 deletion
Mother of 26 year old son with 4q deletion of 31st quarter.
I am a 32 year old new mommy of a 6 week old baby with a genetic disorder known as monosomy 4q. I had no idea of this problem until the day my baby was born, I was bombarded by the neonatologist...
I actually would like to be part of several home communities as I have a son with 4 q deletion and Pierre Robin. My husband has Antiphospholipid Syndrome and multiple other disabilities caused from...
My name is Mindy. I have a daughter named Brea that has a 4q deletion. She was born May 25th 2007. She is a beautiful little girl:)
I have a 9 year old daughter with 4q21.1-21.3
I have a 8 year old daughter who has 4q deletion syndrome 27-31.1.
Girl, May 2008

 

microarray CGH results were

 

arr cgh 4q21.22q21.23

 

(82,828,565-84,642,756)x1
Mom of a 5 year old sweet little girl, diagnoised with 4q Syndrome.
My son was just diagnosed with 5 q deletion. I can't find anything on 5 q deletions so I'm following my lj friend jenrose here in hopes of learning more :)
Hello!

 

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...
Mom of Shiny, who has del 4q21.1-21.3, and owner of the yahoo 4q deletion group.
I have a 18 month old son , that we just find out has Chromosome 4q deletion. We don't know much about it yet . They told us that he is one of akind. No one else has he same deletion. So they can't...
My son, Jacob, has a chromosome deletion 4q 21.23 and I am interested in finding other children with similiar deletions.
Mother of 2 daughters. Peyton who is 9 years old and Brooklynn who is 6. Peyton is a normal crazy girl. Brooklynn who has the deletion in Chromosome 4q 21.22 to 21.3 is the sweetest, most loving...
I'm 44 years old. I have been with my husband for 19 years but only married for 5 years.

 

I have 2 stepsons. One aged 28 years & one aged 24 years.

 

 

One son of 21 years who I have...
My son was born in 08/08 and has 4q deletion 32.3q. He was born with a VSD, but otherwise doing very well. He is almost 8 months old, and the biggest blessing of my life! Looking for other moms to...

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Discussion Forum

4q 21.1 deletion

Created by Amber097 | Last updated 20 Oct 2021, 05:22 AM

UX TESTERS NEEDED: HelpAround Specialty Patient App

Created by | Last updated 10 Jun 2020, 04:50 PM

4q13.3 Deletion

Created by Nlacroix | Last updated 7 Feb 2020, 08:07 PM

4q21.22-21.23

Created by Sherri | Last updated 22 Jun 2019, 02:52 PM

4q28.3 deletion

Created by Lynn Mccoy | Last updated 12 May 2019, 10:00 PM

13.1-21.1 Deletion

Created by Ozgur | Last updated 15 Jun 2018, 09:00 PM

4q33

Created by simmonshope45 | Last updated 29 Dec 2016, 10:04 AM

4q facebook

Created by MRG10810 | Last updated 26 Dec 2016, 07:37 PM

4q 14 to 16.1 deletion

Created by Lulu | Last updated 17 Nov 2016, 09:21 AM


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