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Another chromosome question for the experts

13 replies

Caroline5 · 05/07/2005 20:47

dd2 (age 4) has already been tested for Rett and Angelman syndromes (negative). I am now wondering (having trawled the internet obsessively )whether she has Cri du Chat syndrome (deletion of part of 5th chromosome) - she has always had quite a 'squeaky' cry and does seem to have quite a few of the other characteristics including microcephaly, epicanthal folds, hypotonia, poor appetite/eating, delayed mobility and no speech (sounds depressing in a list like that). However, her chromosomes have already had an overall general review.

Do the experts on here think it would already have been picked up if she had this or would it need to be looked at in more detail? Thanks

OP posts:
bluebear · 05/07/2005 21:05

Hi Caroline - do you mind me asking if your daughter has been seen by a clinical geneticist (rather than a paed. )

To answer your question - most deletions that cause Cri du Chat will be picked up by karyotyping (the general chromosome review) - but there is a special test called a FISH test which can look for really tiny deletions (not visible by conventional methods) - this can be targeted to look for Cri du Chat deletions. It is possible that your daughter's chromosomes were tested like this when they were karyotyped but it may be worth asking your consultant if you are really concerned.

Caroline5 · 05/07/2005 21:19

Thanks bluebear - yes we have seen a consultant geneticist, but not for a couple of years. I'm hoping to get another appointment this summer and will mention about this, it's just that I felt it really fitted dd (I suppose I'm just grasping at straws really as it's not very likely at 1:50,000 births!)

I started looking at various syndromes again as recently dd's eating has got really bad and it's looking more likely again that she will need a gastrostomy. I was trying to see how often this was done with children with learning difficulties but no obvious physical problems with eating (apparently it's reasonably common in children with cri du chat).

OP posts:
bluebear · 05/07/2005 21:30

It sounds like you need to raise your concerns with the geneticist and have your dd's medical notes checked to see if she was tested last time. Some syndromes get easier to identify as the child gets older (face changes etc) so it's worth seeing the geneticist again anyway. Good luck.

heartinthecountry · 05/07/2005 22:34

No knowledge of this Caroline5 but just wanted to say hi and to say it is probably worth asking about. Presumably they will be able to tell from your dd's notes whether they already looked for this.

There are only about 800 girls worldwide with dd's condition (don't know what odds that gives) so just because its rare doesn't mean it isn't possible....

JakB · 06/07/2005 07:01

Really, HITC? Bloody hell. Jo Whiley's sister has Cri du Chat syndrome and JO W has talked quite a bit about it. Good luck Caroline5

Fio2 · 06/07/2005 08:07

yes Jo Whiley's sister does have it. Dont they have the 'look' (and excuse me for being very un PC and I guess tamum will come and tell me off) of a child with 'downs syndrome'? i know 'facially' they look very different and caroline your dd doesnt look different does she? not from her pics, but then again i am not a geneticist

god i hate the trawling of sites

chonky · 06/07/2005 08:16

Me too fio. It's tough living without a diagnosis as you end up being always on the lookout for what it might be.

Hi Caroline5

tamum · 06/07/2005 09:39

Fio, I'm not that scary am I? You're right that facial features are usually different with Cri-du-Chat, and certainly noses are often like they are in a lot of people with DS, but I don't think it's always as obvious. Wide-set eyes, I think, too, but all these deletion syndromes vary enormously between individuals because the amount that's deleted can change. I would definitely ask for a referral and to get your notes checked, Caroline5. I'm really sorry to hear about the eating problems, your poor little dd (and poor you).

Merlot · 06/07/2005 11:36

Hi Caroline5

I would definitely ask about Cri du Chat if its something that has been niggling at the back of your mind.

I have the same thing with Angelmans. I know - largely thanks to Tamum (big kiss emoticon!) -that it is not very likely, but it just keeps niggling they are currently testing for it (to shut me up, I think, as much as anything else )

I think genetics is looking for a needle in a haystack and our experience has been: Paediatrician comes up with a possible syndrome...genetic test....think of another syndrome....genetic test. Unlike general karyotying, which gives a general overview in one fell swoop, there doesnt appear to be one very fine detailed test that will look at every chromosome in one go iykwim.

Can also empathize totally with the trawling the internet situation - we just want answer's dont we? Natural I think, if not always possible.

Fio2 · 06/07/2005 11:56

I must admit i have thought angelmans for my daughter as she laughs alot and is obsessive over water, but tbh they have actually said it isnt genetic now but its still at the back of my mind.

Now we are onto neurology with scope that it may be 'subtle brain damage' or a subtlr structural brain problem. Tbh i am at quite a loss to what that actually means in terms of a diagnosis as such

I must admit though as she gets older 9she will be 6 in november) you do sort of get used to them not having a 'fixed' diagnosis. i remember when she was as small as your children i felt absolutely desperate for a diagnosis (ask tamum) i think i have moved on from that now, thankfully as it does make you feel desperate and scared

tamum · 06/07/2005 11:59

Big kiss back, Merlot And one for you too Fio, xx. My paed friend said that his clinic is full of children with no diagnosis, I guess it's really common (he's not just rubbish at diagnosis I hasten to add).

Caroline5 · 06/07/2005 18:27

Thanks everyone and hello I think I am going through a phase of wanting a diagnosis - partly as I'd like a reason for why dd has no interest in food - I suppose I want to be sure it's not something that I'm doing wrong, but is explained by her condition. I guess I'm never going to get that anyway.

chonky - we must try to meet up (I know I keep saying that ) - I may actually have got a babysitter organised so perhaps we could hit the Twelve Bells again?!!

fio - how are you? Sorry for not being in touch - things are a bit busy what with one thing and another...

OP posts:
chonky · 06/07/2005 20:14

Great news about the babysitter, I'm always free to go for a beer at The Twelve Bells - drop me a line when you're free

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