Showing posts with label human genome. Show all posts
Showing posts with label human genome. Show all posts

Tuesday, 16 June 2009

He's back!


Yes, the boy has returned. He had a great time. He reported that girls in bikinis were not much in evidence. Possibly because the clubbers are up all night and asleep all day. He talks a lot about having a girlfriend but as I said to his neurotypical sister, he may have to leave the house once in a while to find one...

Still waiting on results of blood tests for possible genetic conditions. In one sense, it doesn't make a whole heap of difference. Nothing alters in Jordan's educational provision or his daily life. I suppose it's one more piece of the jigsaw.

Tuesday, 3 March 2009

Chromosome 9


Well, the plot, as they say, thickens!

Ongoing genetic testing has revealed that Jordan has extra material on Chromosome 9.
Testing continues and we should know more in a couple of months. Looking it up on the web revealed this could be the cause of Jordan's developmental delay! Blimey! Not the meningitis then.

'Other changes in the structure or number of copies of chromosome 9 can have a variety of effects. Intellectual disability, delayed development, distinctive facial features, and an unusual head shape are common features. Changes to chromosome 9 include an extra piece of the chromosome in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called a ring chromosome 9. A ring chromosome occurs when both ends of a broken chromosome are reunited. Rearrangements (translocations) of genetic material between chromosome 9 and other chromosomes can also lead to extra or missing chromosome segments.'