Chromosome 17p 13.3 duplication

Carol - posted on 08/01/2013 ( 11 moms have responded )

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I have just had results from bloods done on my son. I thought they were testing for fragile x (fmr1 cgg repeats). but turned out they done a cgh array which seems to be the common thing in the uk and tests all chromosomes but cannot detect fragile x. The array has shown a duplication in chromosome 17 which they say could be the cause of his difficulties, and wont currently test for fragile x. I was wondering if anyone has come across this and is it at all possible to have both? Thank you.

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Annette - posted on 04/18/2014

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Hi Carol, live in North East Lincolnshire, my lad has lots of medical problems all on going, severe learning difficulties too so the geneticist thinks he could have another syndrome as well he has epilepsy too.

Carol - posted on 04/17/2014

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Sabine I recognise your name through unique web, and possibly the extended group 17p13.3, and think I have spoken to you before.

Annette, I have the same as you my son will be 15 in July and I have since been tested and carry the same chromosome disorder, and apparently not affected, however, I might dispute this theory as I suffer from anxiety, possible depression and possible fibromyalgia ( I already have DDD), which all of these seems to be manifesting in my son, I guess we all just want answers, but it seems there are not enough recognised databases with cases on to compare our children (as yet), I am waiting for the rest of the family to be tested as I have three other children and three grandchildren, one of which is showing similarity to my son, I'm from the UK and it takes an age for our health service to do anything!!

Annette - posted on 04/16/2014

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Hi, everyone, my son was tested and diagnosed with the chromosome duplication 17p13.3 in 2011. His symptoms and medical conditions ticked most of the boxes in the Unique booklet given to us by the geneticist. He is now 16. when he was diagnosed he was one of four in the world known with this rare condition. My husband and myself were tested when he was diagnosed and last year I found out I had this chromosome duplication, I was really shocked as I am quite "normal" ha,ha. My 26 year old daughter who was pregnant at the time and my eldest son who is 24 were tested after I got my results and thankfully my daughter does not have this chromosome duplication and I have a beautiful 5 week old grandson. Unfortunately my son does carry the chromosome duplication and has a 50/50 chance of passing it on to his future child. My siblings are currently being tested, but all their children are fine apart from one niece who has two autistic boys

Sabine - posted on 03/30/2014

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Hi everyone ,

My daughter has been diagnosed with duplication of 17p13.3 this past September.

She is now 2.

The genes that were found duplicated and that are of particular interest at ywhae which causes autism and behavioural issues and pah1b1 ( excuse spelling error) and that causes hypotonia and development delays.

My daughter has all of them....

I am told this duplication is not classified as a syndrome yet but if there is a few of us out here that can share the information namely exactly what genes are duplicated and exactly how this has affected our children we can write to our GPs with this information to allow all of us to get the right care for our children

Although my daughter is displaying most autism spectrum characteristics tney tell me we can assess cos she's too young - when in fact the gene duplication alone should be enough to say she's prone to it and likely is on the spectrum.

Anyway , I would love to meet as many of you moms , I am in London - please email me to chat - either to boghosrarechromo@yahoo.com or rarechromo17p@hotmail.com

God knows we need to talk

Ann - posted on 02/03/2014

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Can anyone provide more information on the specific behaviors of a 17p13.3 duplication? Many thanks

Sillyshears - posted on 01/28/2014

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I have a 7 year old daughter with 17p13.3 duplications. She has learning disabilities, behavior problems and some physical

Carol - posted on 08/23/2013

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Hi Joanne

Many Thanks for your response. I have since found out that this is quite rare, as there are not enough reported cases to compare "notes" there is not much information about how it affects our children.

I take it you have joined unique? plus there are two face book groups dedicated to this particular chromosome disorder. If you would like to join you can send a request, or let me know your username (if you use fb)

Joanne - posted on 08/23/2013

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Hi 2 of my daughter's were diagnosed with 17p13.3 duplication earlier this year. They both have behavioural problems. The geneticist we saw said that they wouldn't test for anything else once they have a diagnosis as it costs too much and it may show up something else which is not well k own. They have said that they do not know if it is the reason why my children have behaviour issues or whether it is due to something else. There is not much out there in the way of information for it and as my children are relatively young the medical profession are just waiting to see how they progress.

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