On Saturday we got the long awaited "further results" of genetic tests done on blood taken from DS2 (8), DH and I that we had taken at geneticist's suggestion last year.
Prelim results showed some deletions that I had the same.. and there's clearly nowt wrong with me (well apart from the usual type of insanity!) so they wanted to send them back to lab to look for something peculiar to just DS. This was 3 months ago.
Now they have found a "small deletion on the long arm of Chromosome 14" which they are saying "likely to be the cause of his problems". (DS's problems are many and varied but include a dystonic cerebral palsy type problem.. can't walk/stand although is physcially strong.. developmental delay/mod - severe learning difficulties/epilepsy (well history of 2 huge status epilepticus episodes in 2005), ADHD, dairy allergy, hypothyroidism etc etc.. list does go on....)
She wants to see us in the local clnic "soon".
Is this likely to a A Diagnosis??!
Of what I wonder? Fairly extensive googling has uncovered something called "Chromosome 14q deletion syndrome" but it doesn't exactly describe DS.. I've seen other syndromes (that he clearly does not have) describe him better!
I am almost too tired to wonder much about all this.. hence 3 day delay before posting it on MN!
What think other folk?
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Deletion on long arm of chromosome 14 .. er right ok!
22 replies
ShinyHappyPeopleHoldingHands · 15/07/2008 22:28
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FioFio ·
16/07/2008 21:07
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FioFio ·
18/07/2008 07:46
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