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Neurology (Expert Forum)
triplo x chromosome
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triplo x chromosome
by rosie-stein, Oct 07, 1997 12:00AM
Re: triplo x chromosome
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Posted by CCf Neuro MD on November 10, 1997 at 19:36:38:
In Reply to: triplo x chromosome posted by rosie stein on October 07, 1997 at 09:19:40:
: My granddaughter has the subject chromosome anomality.
She appears to be normal from every aspect except, we were told that
the MRI indicated that there is a small amount of fluid on the brain.
Further, that this did not "seem" to be a problem or that any problems are anticipated.
However, I am concerned espicailly since I don't seem to be able to find
any reliable research in re this subject. Nothing I have found aout
this anomality applies to her and I have not found anything which links
the fluid on the brain to the triplo x chromosome.
I would appreciate all information, sources thereof and research in progress, if any.
Rosie Stein
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I am unclear from your question as to exactly how much information you have so far on the XXX defect, however I presume you are aware that it is similar to Down syndrome insofar as an extra chromosome is transmitted to the fetus,
In Down’s syndrome chromosome 21 is involved, in this case the female has three instead of the usual two X chromosomes. This is a disorder which is much rarer than Down syndrome and the spectrum of disability is much wider. I have found no cross reference in the literature which mentions Hydrocephalus, the technical term for extra water in the brain with this disorder.
A wide range of learning difficulties is however reported, ranging from severe difficulty with reading to almost no abnormality. There is one report in the literature from Sardinia, of a mother with triple X who transmitted a related genetic defect to her sons, so fertility is not necessarily affected.
I found one reference to an article by A. Robinson in the journal “ Birth Defects” Origional article series , Published in 1979, Volume 15(1) pages 261-266, this lists the spectrum of problems found in a range of genetic disorders of the sex chromosomes including triple X.
I will attempt to get this article by interlibrary loan as it would probably be found in specialised pediatric hospital libraries, if there is any useful information I will post a follow-up message.
CCF NeuroMD
