unbalanced translocation q4 (35.2) q11(22.3)

Hi My lovely daughter was born by IVF (icsi with assisted hatching) and has unfortunately inhereted an unbalanced translocation between chromo 4 (missing from 35.2 tiny amount) but has additional chromo 11 from 22.3. Her dad is the balanced carrier of the same and we did not know prior to pregnancy (despite all the usual & advanced tests) that he had this. Lucy is now 11 months old and has low tone (trunk) and some gross motor development delay although is very bright, alert, verbal & plays with toys. She cannot sit, roll, crawl etc and has had silent reflux scince birth.

She has to undergo three operations (general anestetic) later this year to fix a dislocated hip (was born breech). Does anyone know if she is at more risk of developing brain damage as a result or should she be at no more risk than ususal? Lucy also had unexplained ecoli septiceamia at 5 1/2 months but with medical help recovered fully.

I would welcome any help as her particular chromosome make up is so rare. Thanks!

[martikadragoon]

Hi! :)  My lil guy has T21 (down syndrome) and a K10 mutation resulting in EHK or Epidermolytic hyperkeratosis which is normally a 1:300,000 occurance but since he inherited it was a %50 chance.

he had open heart surgery at 10w old and also has had minor surgeries to put in a Mickey button (feeding tube) and ear tubes.

I found this for you off of another site I frequent.:

http://ghr.nlm.nih.gov/chromosome/11

hopefully that'll help

[Dragon1973]

Hi Samb1972,

As Martikadragoon said above, I too have a son with T21, Down syndrome, and many of what you describe our children deal with too.  (Specifically Hypotonia (low muscle tone) and gross motor delay.)  Presumably your daughter may have some developmental delays, but I would like to know, have you had the opportunity to enrol your daughter into the Early Intervention Programs?  Your daughter qualifies for these free services provided to give her the necessary therapies to help with her development physically and cognitively.  Because these services are available, our son Hunter has excelled at a typical developmental rate, and is also very bright and is ahead cognitively in development.
I am aware that the UK has these programs, and with a unbalanced translocation, she will qualify.
Also, some sites to read:
http://www.genetics.com.au/pdf/factsheets/fs07.pdf  (This is an amazing concise piece of literature on Chromosomes Balanced and Unbalanced).
http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/structuralchanges

Hopefully this helps you and that you also additionally get further information regarding Early Intervention from your Genetics Counsellor.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[samb1972]

Thanks so much for your replies, Lucy is booked into an early intervention programme and we have OT, Physio & portage (play) on a regular basis. I will check out these websites and see if i can get any more info - but i'm quickly learning that the actual chromosome points etc are less important than the fact that there is some problem there. I've heard  'mosaic effect' mentioned and so far it seems that Lucy's missing colours are in her tone and gross motor skills - but weiredly her fine motor skills are streets ahead of what they should be for her age!

Thanks so much to this site for the support and information.

Best wishes Sam :)

[Dragon1973]

I am happy to help!

In terms of mocasicism, yes that is definitely a reason for lessened effects of any chromosomal abnormality, and you can find out whether she is Mosaic by doing the blood work.  We were told that Hunter was likely Mosaic since his features and characteristics were so mild, but it turned out (after the blood work was re-done after birth) that he was not.  They just chalked it up to being a high level/functioning case of Down syndrome.  Either way, we were happy and  just fine which ever way it turned out.
I am also glad Lucy is booked into EI, it will help tremendously as will your ongoing positivity!

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[Kricket212]

I am in the process of having blood chromosome testing because of multiple miscarriages. Do you know if these are some of the things they can catch ahead of time?

[samb1972]

Hi Sandi

Thanks again - i didn't even know that you can be tested to Mosaicism - just heard the name associated with issues. I'll check if we can have that test done. Still awaiting the genetics lab results for prada willis syndrome which we were floored with as a possibility last time we saw the genetics counsellor - what would be the chances though eh? Very unlucky indeed!

I have another question for you & others ... the early intervention programme in the US - just how interventive is it? I'm in the UK and so far we have seen a whole host of people from ot to speech but only a handful of times - the pysio is now stepped up to once a week because i demanded it but i'm not sure we are seeing the others regularly enough to make much progress & i'm mindful of the fact that the first three years are crucial and Lucy is One very soon. I'd appreciate any guidance you have or even literature out there so we can feel more equiped to do stuff ourselves (Lucy is our first child so we are new to it all!) Thanks again in advance. Sam :)

[samb1972]

Well the good news is Lucy does not have Prada Willis on top of everything else (we were thrown this curve ball two months ago as a possibility), but according to her genetisist she is also not mosaic as this would apparently have shown up in her orginal blood test for the kareotype.

Any feedback from anyone out there on level of intervention would be great! Thanks in advance. Sam

[martikadragoon]

My son gets OT/PT and Play time and we work with him to continue getting him past his oral aversion, and he eats stage 3 babyfoods now (YAY!) he used to gag with even stage 1 foods or if we touched his lips.gums so stage 3 is a miracle, it took ALOT of  work. :)

[samb1972]

Thanks for this! Lucy is ok with the food stuff although hand feeding is a bit hit and miss, and drop and slop! Finally getting play therapy starting next week so fingers crossed that will be good for her development. The low tone struggle is ALOT of work too - think we all need a medal when any milestones are reached!

[martikadragoon]

the physical therapy will help alot and they'll show you excercises you can do with her when PT isn't there.
Like Sandi (dragon) the doctors here in california have all expressed curiousity about mosaicism, but hes got "typical" DS, lol.  if you look at my pics (and those of Sandi's son) you can see why. some of them its very difficult to see any of the regular "markers" of DS in his features :)

I know I'm late answering again, health issues and then computer issues kept me away :)

[martikadragoon]

and to add, Tj's got low tone, doesn't crawl or walk and will roll minimally and do an upper body pushup from his hips to arms only. he's actually very bright but our kids have ways of fooling us into thinking they just arent getting it until all of a sudden they do something new.

yesterday my son actually waved byby by opening and closing his hand, instead of just flapping it. it was awesome!

[Dragon1973]

Hi Kricket212,

I am so sorry not to get back to you sooner.  I had not noticed my notification that you had asked me your question in this thread until today.  I hope that I can still provide the answer you are looking for.

In as far as testing, you will have to ask your doctor for a genetics referral, and I am so sorry for your losses.  I too had a recent loss this past June, and I had to fight with the genetics department to get my testing done.  Here in Canada, they don't do any testing until you have three losses or situations that could potentially involve genetics.  The thing I would pass onto you for testing is something called MTHFR.  This is a genetic mutation that affects 1 in 3 women, and is responsible for miscarriages and seems to be linked to the incidence of chromosomal abnormalities such as Spina Bifida and Down syndrome.  MTHFR is a mutation that makes the body over produce an enzyme called homycysteine.  This inhibits production of another enzyme called methylenetetrahydrofolate reductase.  It can result in hyperhomocytenemia, which is the elevated level of that enzyme called homocysteine found in blood plasma.  There are certainly other genetic situations that you could have that are responsible for miscarriage such as a translocation (which is where one chromosome breaks off and attach to another chromosome) in your karyotype.  Often times, women who are having consecutive losses, do not know that they have something called a balanced translocation or unbalanced translocation, if through their whole entire lives they have not had any other health related issue that would signal them to the concern.  Once they start trying for a family, and endure losses, family doctors should be prompted to refer to genetics to see if the losses are caused by something abnormal in the genetics for either herself or her partner.

If you are interested to know what you can do or things that you might want to look into, please send me a direct message.  I just went through my own genetic karyotyping, and I was originally familiar with it because my son was prenatally diagnosed with Down syndrome (Trisomy 21).  Please remind me in your message about this post.  In fact, I will send you a message with the link to this message so that we can recall what our conversation is about.

Hope to hear from you soon.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[Dragon1973]

Hi Sam,

I noticed you got the results back for Lucy and I am glad you found out that she doesn't have Prada Willis.  That is bitter sweet.  It is great that she doesn't have that, but I suppose that you are now lost in wonder exactly what does she have?!  The road to genetics testing is hard and sometimes long.  It tends to be a catch 21, when your child doesn't have the usual items that they can test for, you almost have to know what to ask for in order to be able to test for it.

You had asked what the American Early Intervention is like, I know Martikadragoon can tell you about there, I am Canadian, and I know our systems are pretty similar, but even in the States and in Canada, the services can very state to state, province to province.  Here in Ontario, the services are fantastic.  Whatever our son needs, he gets.  Whether it is medical, physical or even on the homoeopathic side like Osteopathy, he gets it.  They all come in house, so it is fantastic.  Our Main EI is/has a physiotherapist major as her back ground, so it is extremely helpful for when we wanted to talk about things we can do to help our son with milestones, she was able to provide us with the proper instruction.  Mind you, our son needed very little guidance and help with milestones, he always met them before typical time frames.  I do attribute that to having a fantastic EI team.  Our EI always gave us lots of literature that she left with us if we wanted to help our son move onto the next stage or when he was ready to tackle learning something new.  But Martikadragoon is very right about our children surprising us by showing us things we didn't even know they were ready for.  She mentioned how her son started waving appropriately, and ours did that this past week also, so I think it is fantastic.  I hope that you do receive the same attention and care with your Early Interventionists.  If you don't seem to get what you need, you can always contact the board, and let them know you would like an assessment, or to have someone else come out.  Never settle if you are not happy with the services.  They are there to help you, no matter what.  And, remember- what you say, goes.  When it comes to Lucy, nothing but the best!

Keep me posted, I haven't heard from you in a while!  Send me a personal message if you can!

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[cead]

Dear Samb1972

First of all, sorry to hear that you are going through so much.

Secondly, if your daughter was diagnosed with an unbalanced translocation between chromo 4 (missing from 35.2 tiny amount) but has additional chromo 11 from 22.3.  then she could not have what you are testing for (PWS).

First of all, the correct name is PRADER-WILLI Syndrome.  Not prada Willis .

Secondly, PWS is found on the #15 chromosome at 15q11-q13. Secondly, the deletion is paternal in origin.  If the same deletion is maternal then it changes to Angelman's syndrome, which is an entirely different syndrome.  Since PWS is on the #15 chromosiome, which is not the chromosome that is involved with your daughter, WHY would you even be testing for PWS?!

You are at the wrong message board here.  Since you are already in the UK, you need to hook yourself up with the "Unique" support group that is right there close to you.   There are a great bunch of mums there for you to meet and talk with who do share your interest.

go to: www.rarechromo.org

Cead

[samb1972]

Hi All

Sorry not messaged for a while - been a bit hectic with Lucy's early intervention programme which is now at full pace with everything from Physio & OT to speech and portage (play) we really are hooked into it all now and it seems to be making a difference. Lucy is also attending a specialist nursery two sessions a week (couple of hours each time) this is based at the children's hospital and is wonderful not just in terms of what they do with her but for giving me a break!!

Cead re the prader - willi it was the genetisist at Guy's hospital who suggested we test for it as Lucy had all the symptoms and the previous test had not screened for it. She later said that there is some evidence that IVF babies are at a higher risk of PDS for some reason. Lucy was IVF. We are just pleased that we are back to dealing with one chromo problem and not two! We are also members of Unique but as Lucy is so far so unique as to be the only one on the world gene database with her unbalanced translocation, we felt it appropriate to cast the net wider than the UK for advice!

Lucy is rolling (when she wants to!!) and much better at tummy time, she is however due for her open reduction hip surgery in 10 days so will be in a full cast for 3 months :(  We are going to focus on the fine motor skills and speech when she is in the cast and then do intensive physio when she's out of it. It's been a hell of a year and i nearly bottomed out of it but with a supportive family, great Health Visitor & counsellor and now anti depressants - we are finally getting to a level of acceptance. I've even been asked by the children's hospital if i would help write a leaflet for parents of newly diagnosed kids to help advise re the impact. If i can help anyone else going through this then that and making Lucy as able as she can be will all be worth it.

Thanks to all for your supportive comments

Sam x

[samb1972]

Hi It's been a while since i last posted but thought i'd give an update in case anyone else out there has a child with similar unbalanced translocation.

Lucy has just turned two, she cannot crawl or walk, says only one word 'more' for food or toys, generally eats well has good fine motor skills but still poor gross motor and low tone in trunk. Med tests revealed a small asd in heart, strange shaped optic discs but not affecting vision, 'normal' brain scan but absence of teeth apart from one top front which came through at 20 months and 5 tooth buds shown on mri but not through. Lucy can sit unaided (although cannot sit up from lying down) and rolls well any which way - on her tummy she looks like she is about to crawl but just wriggles! Her Ped says she is has global development delay and is 50% behind. Her speech therapist however says she's at more like 9 months.

Her delay is very draining on the whole family and the older she gets the more depressing it is to go out and see other children her age living normal fulfilled lives - I avoid certain situations - parties etc as a coping mechanism. I'd welcome any one who is dealing with a similar situation to respond as it's a pretty dark and lonely place at times - she does laugh sometimes and at that point you know it's worth it - but the road is steep!