Katy in 2005 following open reduction surgery for hip dislocation
Chromosome 6 Deletions:
A chromosome 6 deletion is a rare disorder in which some of the genetic material that makes up one of the body’s 46 chromosomes – specifically chromosome 6 in this case – is missing. Like most other chromosome disorders, this increases the risk of birth defects, developmental delay and learning difficulties. Exactly what those problems are in each case can vary wildly depending on what genetic material is missing. Even those cases with the same or similar breaks may experience drastically different effects.
The most comprehensive site we have found on the subject of chromosome 6 disorders is from an organization known as Unique: The Rare Chromosome Disorder Support Group out of Great Britain. While they make sure to mention consulting a qualified clinician in all matters relating to genetic diagnosis, management and health, it has been our experience that very few, if any, doctors out there right now have much experience with chromosome 6 cases. The most helpful information you will find is through support groups, like Marie Montroy’s original Yahoo Chromosome 6 Deletion Syndrome group, and others now available through social networking sites like Facebook.
(Some information above ©Unique 2007)
my daughter is missing chromosome 6, she is EXTREMLY overweight and i have never met or talked to anyone that has had this, im dealing with the old genetic dr from the mayo clinic he now is in a research area of a new place, does anyone else have kids that are overweight with this, she is 7 and 175lbs
My son is missing links of his chromosone 6. He is 6 and very tiny for his age.
Jesscia-
I apologize for the length of time it has taken me to reply to you. I hope you’ve found the chromosome 6 group on facebook which is the main way of contact for all of us at this point. Please feel free to e-mail at oswald.todd@ (at) gmail.com with any questions.
I wish I had answers for you and your son. Much of what we’re dealing with with Katy is completely by the seat of our pants.
Best wishes to you and your family,
todd
What is the name of the 6q facebook page? I’m pregnant and learned that my unborn daughter has 6q deletion through an amniocentesis- I am so lost on info and am desperate to find a group!
Did you ever find out what specific c6q deletion your child has? I have a child with a 6q21 partial deletion, when we found out we braced ourselves for the worst but he is 6 now and doing SO well! One of the best readers in his class. His gross motor skills and vestibular system aren’t 100% but we are working to get to a good place. He’s happy though and confident which is all you can ask for with a 6 year old.
Hi love.. .
Im aware it was some years you replied on here, but i found out my daughter has deletion q25.3 and is a very happy child and had bo issues atal through her first year and doesnt have any distintive features and progressed very well then stopped ralking after the MMR.
Its all very new and its hard to know and find the right supporr.
She doesnt respond to her name or request but very smart at 3 woth colours alphabet and numbers…
I hope she will one day have a conversation lile she once did.
Was regreshing yo read your post
My son has chromosome 6 deletion, he is also tiny. Hes just turned 1yr old and hes just 12lb. can i ask, does your son have any other problems, my son is still like a new born, unable to hold his head up, hes had major heart surgery to repair a large VSD, he cant eat orally, he hes just had a peg put into his stomach.
Hi my sons names jude he had a lot of problems when he ws born very floopy wouldn’t feed was ng feed 4 months and had apnia alarm. Found out when he was about 8 months he had delision on 6 24q 25q very small pices missing he could sit up till he was 9 months walked at 12 months couldn’t talk till he was about 3yrs he fine now no medical problems he is in 6 -7 yrs cloths he attends specialist school for emotional behavral disorder .
Nicole,
My son is 15 with chromosome 6 deletion. It us common for kids with chromosome 6 deletion to carry the phenotype of Prader Wili syndrome. Now with that being said I’m sure you will look up that syndrome. When i found out that my does have the phenotype symptoms only two years agop, so many things were answered that mom here new were related to his medical condition, but no “proof” off it, such as heavy sleeper and an insatiablehunger and thirst and encopresis and enuresis.
my son is missing part of the 6th chromosome, he is 14 and he is very underweight. We have tried every thing to make him gain weight and nothing works. He also suffers for seizures and is delayed about 6-8 years. I would love to talk to other families and share our stories.
hi there my daughter is missing chromosome 6 and more 10 she can be EXTREMLY violent and she not very good with emotion and she has a lot of engery . and also her half sister has the same discorder their got from there dad and he died from deitbetie and could look af
Clare-
I’m sorry I didn’t see your comment until just today! I’d be very interested in hearing more about your daughter. Please let me know if there’s anything I can do to help. Hopefully, you’ve already seen the information I’ve posted in other comments concerning the facebook group that represents are biggest mode of contact for all of us C6 families. If you haven’t already, please contact Elizabeth Preston Mcpherson on facebook to join the https://www.facebook.com/groups/chromosome6/ group. If you’re not on facebook, feel free to contact me at oswald.todd (@) gmail.com.
Wishing you the best,
todd
my son also is missing part of he 6 chromosome, and also has a lot of energy and is not good with emotions and will hit and bit himself when he gets mad and can’t communicate his emotions.
I have. Daughter 14 years old. I have been told she has missing parts of 6. She always hungry and will even begs for food from anyone. She is really hard to control always angry. I’ll be honest I’m struggling. She is full of energy I just can’t keep up. She still has toileting issues. Does anyone else have this?
Hi my daughter is 8 and her dad , have part deletion of Chromosome 6.they are the only 2 in world with -962 of Chromosome 6. Her dad has polycystic kidney disease, she doesn’t. She is developmently delayed, and is more like a 5 year old. Her toilet training was fine her whole life, now she is regressing. At night she wears a pull up. She likes to pick at her skin, because school was so frustrating, she started that in Kindergarten. She is moody, hates to be told no. But is slowly learning to read , has 35 sight words, the biggest issue is short term memory loss. So each day is like starting all over again, so it makes reading and learning very challenging. She is great with animals and people, people are just drawn to her. She even modeled as a baby. And her features are becoming more beautiful now.
We deal with short term memory loss too… it’s so strange. I will tell my 6 year old a story and one minute later he has completely forgotten what i told him. I think it’s getting better though. He is a great reader which has eased a lot of my anxiety about how he will do in school.
Our son also has chromosome 6 deletion and is 21 years old.
Nicole,
I realize it has been some time since your post but I just came across this site. I realize you said you were seeing a geneticist from Mayo but I wasn’t sure if you were getting all the information you were looking for because of your reach-out here. I’m a senior at Iowa State University and took a Genetics class with Dr. Steven Rodermel and was extremely impressed with him. I highly reccommend shooting him an email about possible people you can speak with regarding any further questions you may have should you find yourself unsatisfied elsewhere. If he doesn’t have answers you need or want, I would bet he could give you some damn good names to get ahold of.
I’ve listed his credentials below-pulled right off of Iowa State’s directory.
Best of wishes to all of you and your children,
Samantha
Steve Rodermel, Ph.D.
Professor: Genetics, Development, and Cell Biology Department
Office: 515.294.8890
Email: rodermel@iastate.edu
Education and Post-doctoral Training
Ph.D., Harvard University, 1986
M.S., University of Wyoming, 1976
B.A., Yale University, 1972
Hi I am 32 and have chromosone 6 deletion I have add & asberges I also have a 12 yr old and 9 yr old who has the same we have 6p deletion that’s the short arm. I do believe having add & asberges is link to the deltion. If you would like a chat your more then welcome
Ailish,
Thanks for sharing your experiences. It means a lot to see someone who has had a productive life from a similar situation.
Todd
My son who is 15 who has 6q deletion also has add and on the autistic spec
I just found that they found out my son has a small portion missing. You sound just like him. He has ADHD, Asberges, and short stature. He is 10 and a great kid. I would love to talk with you.
Hi,
Just wanted to share and add to the page. My son is 4.5yo with a 6p chromosomal deletion. He has hirschsprung’s disease, seventh cranial nerve palsy, heart murmur, autism, intellectual impairment, hypotonia, visual atnd hearing impairment and sensory disorders. We got our genetic results about siz months ago and it was with a sigh of relief to have an explanation. I joined a support group on facebook and through this was linked up for a 6p&6q study which is currently underway. My son is a within healthy limits of height, weight and head, but is a chubby boy considering his bowel surgery left him with no bowel control and frequent bowel motions. He also has some isolated non specific brainwaves associated with his developmental delay.
Hoping everyone’s little ones are well.
my son also is missing part of he 6 chromosome. Just wondering if anyone else is experiencing trouble with bowels. My son is 14 and is not fully potty trained, I think it has to do with him not knowing and having a hard time with his bowels.
Yes we also have this problem. 14 years old she was given mediation but still not helping.
Hi, I have an 11 year old daughter with a deletion on chromosome 6q14.1. She has delayed motor milestones as a child. She was not diagnosed until age 7. She has hypotonia, ligament laxation. We have done occupational and physical therapy for years. It has helped. Her cognitive functioning is overall average with weakness in working memory and visual spatial ability, but strong verbal comprehension and fluid reasoning. She is very emotional and immature. She suffers from very severe ADHD and executive functioning deficits. We have not had much luck with medications.
I just found out my son of 52 years has a problem with chromosome 6 and high iron and now leadis to the liver problems I need some anwers or question please thank you in return. He has has a test and will now have to wait for 5 weeks So I will and my other sibling will get tested as well .. over now and hope to be able to read somethiing soon thanks again Joyce
I would love to get my ex husband siblings tested. My ex is 56 years old, and it was pretty shocking for him, his deletion,is where. He just got polycystic kidney and new diabetes. But he is so happy, that he is not – stupid!!
My girl is 14 month-old n was diagnosed with C 6q 15-22 deletions when she was 4 month-old. She has PDA and ASD when born. She had feeding problem and strong reflux which are fixed with G-tube and nissen. She has seizures, very flat head. she is hypotonic, developmental delays. She needs therapies to help her development.
I have been trying to find more info on this type of deletion. Now i find this page!
My son has chromosome 6p deletion and is 2yrs old and weighs 19.11 lbs . He had to get a Gtube in August so he could gain weight . Before the Gtube he weighed 14lbs for mouths he wouldn’t even gain half a pound:( he can’t do things like sit up,walk or talk. He can hold his head alittle bit but that’s it 🙁 he laughs and smiles and kicks his legs and moves his arms and jabbers all day .
My daughter who is almost 2mnths old has chromo 6 deletion n has a bilateral cleft lip and pallet n her left eye didnt develope fully in the 1st trimester and has a growth restriction currently got a g tube cuz she may never be able to eat threw her mouth !
i have just found out that my 2 1/2 year old daughter has 6q deletion, the genesist could not tell us much on how it will affect her future. she is very slow with development and she has problems with eating and going to the toilet bowel wise. she is still a happy girl but i worry for her. she has just started walking and can still not talk and i try to potty train but she still will not have it. she sees a physio, 2 paediatricians, home support team, genesist, and speech and language. i am new to this condition and i feel it is so much information to take on at once. does anyone have the same problems as me?
Dear Kelly
There is some information available on chromosome 6 anomalies. Please see the Facebook group on chromosome 6 disorders and our research group’s website at
http://www.rug.nl/research/genetics/research/chromosome_6/ (choose the British flag in top right corner for the English version).
Hi Kelly,
I also have a 2&a half year old that has just (yesturday) been diagnosised with missing chromosome 6. I left the hospital knowing only that. She is very small, didn’t sit till the week before her 1st birthday, walked at 22months and still has no speach. Like your little your little girl she has meny speachlists.
Hello all!!
My daughter is four yrs old she has a chromosome 6 deletion q26q27. She was born with congenital hydrocephalus,both abcense and partial seizures, 11 ribs, she has global delay, autism, chiari malformation, sensory processing disorder, ataxia and I’m sure something I’m forgetting. She has no interest in potty training. She is a very sweet girl mostly happy. She doesn’t like to eat much of anything. Most of her life she has been labled failure to thrive. She is also a very constipated kid. She also has bi latieral smo’s to help stabilize her when she walks. She is very low tone but can walk and sit up and stuff. She had to have corrective eye surgery because she had strabismis. She sees a speech therapist, occupational therapist and a physical therapist both in school and out patient.
My 5 year old recently went on a playdate with a little boy who has chromosone 6 deletiion. He is around 4 years old and not clear on his exact issues but one thing I can say is my daughter absolutely loved him and they got on like a house on fire! My babysitter introduced them at a bowling date. The little boy would put the ball on the ground and my daughter would kick it to help send it on its way down the alley towards the pins. I just wanted to share this story with you as was so sweet. I hope that more help and knowlege is discovered on chromosone 6 deletion.
My son Tanner is 6. He has a deletion of chromosome 6 26q. He is developmentally delayed. He has hypotonia. He is not potty trained and has no desire to go on the toilet. He is a very happy child. We are going through genetics to see what his full diagnosis is. He also has a very bad short-term memory
hi, due to abnormalities on my ultrasound I had an amniocentesis. at first they had only discovered ambiguous genitalia, a single umbilical artery and a missing bladder. after the micro ray results came back they told me there were 3 billion cells that make up your genetics… my baby is missing a million on chromosome 6.
I’m scared. I’m almost 25 weeks pregnant. will my baby be able to breastfeed? there’s so much vagueness surrounding this… I’m scared and confused. can anyone help
.
I have a grandson that was born with this, he has a small pushed back chin, cleft pallet, kidney cysts. Currently 2 months and still in hospital. Just had surgery for chin so he can keep his airway open to breathe. All of us do not know what to expectfor him. Is he going to walk, talk, see, hear. Its comforting to get some info from someone has went through this. How is your child now the journey till now
Hello, my husband and I have been through 3 rounds of IVF. In our last round, we had 2 embryos get to the correct stage to have them biopsied and frozen. 1 came back completely abnormal. The other came back with a chromosome 6 26q deletion. We were told not to transfer this embryo back as it tested not normal. We are torn though. This is our last chance. If there is a chance that a child could fully develop from this embryo, it feels wrong to destroy it. Any other stories with similar deletions would be nice to hear what your experiences have been.
HI AUDREY
MY NAME IS DARLENE I HAVE AN 11YRD OLD DAUGHTER WHO HAS CHROMOSOME 6 DELETION. I DID NOT FIND OUT TILL SHE WAS BORN NOTHING SHOWED UP IN MY ULTRASOUNDS OR ANYTHING WRONG UNTIL THE DAY SHE WAS BORN. AND I FEEL THAT IS YOUR CHANCE TO HAVE A BABY NO MATTER IF HE OR SHE WILL BE BORN WITH ABNORMALITIES SHE OR HE IS YOUR MIRACLE CHILD I WISH YOU ALL THE BEST XOXO HOPE THIS HELPED A LITTLE BIT
Audrey, can I ask what your decision was. I am in the same boat as you. 3 rounds of IVF and I have a high level Mosiac and a -6 11.1. I can’t fine much on that particular deletion at all.
Hi Court,
I too received a high level Mosaic with -6 (H-mos). Like yourself, doing research. Is there any way you can email me at: lydiaaxel@gmail.com. Perhaps we can help each other.
Sorry my email is lydiaaxel23@gmail.com 🙂
My son is 6 months and I just found out he has chromosome 6 missing and he has hydrocephalus with dandy walker syndrome
Hi Iam 49 and just found out I have chromosome 6p duplication I am waiting to see a specialist but I cannot find any information about it sny information would be appreciated
Kind regards
Debbie
This is wonderful! I have finally found others like us. I am so thankful and cant wait to get any information and tips from others parents! My son is almost 2!
Hi I’m Ana I speak Spanish I had a 2 years old little girl name Emma, she has chromosome 6 deletion, I found out when she was born, she’s doesn’t speak or talk, and is like a baby of 6 months old. I’m trying to get more information about this.
Hi., my daughter is almost 3 year old and she is missing chromosomes 6 too, but she is very active , and love playing with other kids she doesn’t talk clearly yet
My son is 5
Missing C6
Autistic
Hyperlexic
Non verbal
Big feelings