[ Post a Response | Cat Eye Syndrome Interest Board ]
Posted by Christine
on 12/14/2003, 12:53 pm
66.91.218.228
Hello,
My son, who is now 7 years old, was diagnosed with CHARGE syndrome at 6 weeks of age. He had a "standard" chromosome analysis done at that time which came out normal. He has bilateral coloboma, the right one of the iris, choroid and optic nerve and a small coloboma on the left (although not of the iris). He had an ASD which closed on its own and has an anteriorly placed anus. He has duplication of the right kidney (two ureters) as well as a lower pole cortical defect. He is moderately mentally retarded and has curved, low set ears. In addition to CHARGE, he also has cerebral palsy and epilepsy.
I was wondering if Cat Eye Syndrome chromosome abnormalities show up on a standard chromosome analysis or if there is a more in depth analysis which is done to test for this? This is the first I've heard of this syndrome and, aside from the chromosome part, the criteria sound very similar to CHARGE and I'm wondering if the correct diagnosis was made. Thanks for any information!
Message Thread:
« Back to thread