[Recrudesce (OP)]

My granddaughter is one of im told, only around 180 cases world wide, to be affected by this syndrome, it is heart breaking for us to see our baby granddaughter not develop like her twin brother, who after one year, is like a tank !
My question is,are their any links, or sources of information about this syndrome, that i can read, and come to terms with it, the better i understand things, the easier i can cope with its result, if this is in the wrong place, please Mr/Mrs Mod,move it to the right one please, its been a while and im baked by the sun, and forgotten a lot of the rules,
Many thanks in advance for any information on this very rare condition.
Ray Hinton.

[RD]

Petrie or P3 deletion ... only around 180 cases world wide ... any links, or sources of information about this syndrome ...

There is a rare-disease called "3P syndrome", a/k/a "Deletion 3p25" ...

Chromosome 3p- syndrome
Other Names: Del(3p) syndrome; Chromosome 3, monosomy 3p25; Deletion 3p25 

https://rarediseases.info.nih.gov/diseases/3750/chromosome-3p--syndrome

http://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf

[chris]

Yes, I don't think it's called "petrie"; I think you may have misheard that; the syndrome in question is "3p deletion" - it's where a segment of the short "p" arm of chromosome 3 has been lost from some or all of the cells in the body. If the loss is inherited from the sperm or egg that made the individual then every cell will carry the change and the syndrome is likely to be more severe. If the deletion occurs within one of the stem cells forming the developing embryo then there is the potential for fewer of the body's cells to be affected and the syndrome may be less severe. Equally, the scale of the deletion may vary between individuals; if fewer genes are affected, the presentation may be less severe than if more genes have been lost.

Broadly, 3p deletion can present with intellectual and social disabilities (like autism), growth restraint and muscle problems. Because these are genetic problems, then unfortunately, there is no prospect, at the moment at least, for a patient to be cured I'm sorry to say...

[Recrudesce (OP)]

Many thanks Dr Chris, and RD, it has helped a lot to understand what is going on with our granddaughter !

[chris]

You're welcome. Thanks for asking an interesting question.

[Recrudesce (OP)]

I was here before for a couple of years, then Doc Beaver passed and couldnt bring myself to visit, now forgot my old login ect, so had to create a new one, and its great to be back 
Our granddaughters condition is quite severe, first she has a hole in her heart, then very reduced muscle function, her hearing is poor, she is only a year old, her growth is slow, but steady, she will be coming to G.O.S.H. to have her heart done first, then its physio and manipulation to try and get her some movement, she needs to be tube fed at the moment, as she cant keep food down, and her suck response has never realy happened, we see some tough times ahead !