About Deletions

by Todd

Chromosome 6 Deletion Information

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)

{ 27 comments… read them below or add one }

nicole August 8, 2011 at 2:50 pm

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

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Jessica Sims November 30, 2011 at 6:15 pm

My son is missing links of his chromosone 6. He is 6 and very tiny for his age.

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Todd December 13, 2011 at 8:11 am

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

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Nicki Stead April 14, 2013 at 2:17 pm

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.

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christine January 17, 2014 at 11:58 am

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 .

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Christy August 30, 2013 at 4:21 pm

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.

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Linda October 22, 2013 at 9:34 am

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.

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clare knowles February 12, 2012 at 6:37 am

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

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Todd February 24, 2012 at 9:58 am

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

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Linda October 22, 2013 at 9:41 am

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.

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Jolene March 31, 2014 at 3:59 pm

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?

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Cynthia April 10, 2012 at 9:52 am

Our son also has chromosome 6 deletion and is 21 years old.

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Sam April 14, 2012 at 2:06 am

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

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Ailish April 8, 2013 at 3:02 pm

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

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Todd June 10, 2013 at 12:21 pm

Ailish,

Thanks for sharing your experiences. It means a lot to see someone who has had a productive life from a similar situation.

Todd

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Christy August 30, 2013 at 4:26 pm

My son who is 15 who has 6q deletion also has add and on the autistic spec

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Nicole June 19, 2013 at 2:37 am

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.

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Linda October 22, 2013 at 9:50 am

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.

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Jolene March 31, 2014 at 4:01 pm

Yes we also have this problem. 14 years old she was given mediation but still not helping.

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joyce veilllieux July 15, 2013 at 5:20 pm

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

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Amy November 9, 2013 at 9:00 pm

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!

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Sarah Johnson December 13, 2013 at 6:49 am

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 .

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Angelica January 3, 2014 at 11:34 pm

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 !

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kelly roberts January 23, 2014 at 6:02 am

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?

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Jackie Senior January 28, 2014 at 8:12 am

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).

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vicky February 19, 2014 at 4:58 am

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.

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Lauren LeDoux January 31, 2014 at 6:30 pm

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.

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