Showing posts with label chromosomal abnormalities. Show all posts
Showing posts with label chromosomal abnormalities. Show all posts

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.'

Monday, 14 January 2008

And the good news is...


...that we don't have Fragile-X syndrome, which as you can imagine, we are pleased about. However other investigations continue to see if any other chromosomal abnormalities are present. Funnily enough, the search has shifted away from the boy to the possible cause of my own eye problems: namely STICKLER SYNDROME. There is an interesting website and support group here.