Wednesday, March 19, 2008

Update: My Chromosomally Normal Male

Last November I wrote about getting the results back from the Genetic Clinic in a post titled My Chromosomally Normal Male. The title implies the results. At the end of my post is an excerpt from the letter I received on Halloween day. There was a paragraph near the bottom of the letter that told me to contact the Cytogenetics Lab if I was interested in them using a probe to check for triplication of the SNRPN region that "has been reported in some cases of autism."

In November I believed I was done with genetic testing. Frankly, I was tired and the initiative to order the probe just wasn't there. However, a few weeks ago my son's pediatrician called me to report that they had been contacted by the Cytogenetic's Lab to see if we were interested in the probe.

I consulted my husband and we decided that maybe it would be good for my son to know (in the future) if he had a genetic anomaly. So the probe was ordered. A few weeks later, a phone call from the genetic clinic confirmed what they had all ready told us: Our son is a "chromosomally normal male."

Go figure.

The excerpt from the letter received in October:

"Your patient was seen in the Spectrum Health Pediatric Genetic Clinic on October 2, 2007. As part of his visit , genetic testing was undertaken for chromosome analysis and 22q11.2 deletion syndrome. The results of the completed genetic tests are normal. This information will be shared with the family."

"At this time we have no further recommendations from a genetics standpoints, and do not anticipate a need to see this family back again for follow-up." The other two papers, the reports, were a mishmash of big medical words and a bunch of numbers. However, there were interpretations anyone could understand on both papers. The interpretation that jumped out at me was on the chromosome analysis report. It read, "Chromosomally Normal Male." ' "That's good to know," I thought, though his medical file in his pediatrician offices indicates that my son is not as 'normal' as most nine-year-old boys. I was glad that the results provided good news. However, under the interpretation for the chromosome report was an additional sentence.

"Triplication of the SNRPN region has been reported in some cases of autism. If you wish to utilize this probe please call the Cytogenetics Lab," it read. The sentence intrigued me, but for now I believe I am done with the genetic inquiries for awhile."

4 comments:

Anonymous said...

Quite interesting. M was genetically tested also, just last Spring. She does have a genetic disorder which they believe is the cause of most of her health problems. We also did lots of metabolic testing. Joe and I just discussed going back to the Cleveland Clinic again this Spring. A tough decision. I don't think I would do anymore genetic testing but I would consider metablolic.

J said...

I think I accidently rejected this comment from a cytogenics technologist when I actually meant to publish it. I thank the professional who took the time out to comment and I am sorry for the delay of publication. Here is the comment as cut an pasted from my email:

One Cytogentics technologist: "It is possible that the lab thought the doctor ordered chromosomal studies again... Just a blind guess... they wouldn't suggest it and then give you that answer. Sometimes the SNRPN studies are not done by the cytogenetics lab. You can ask for it again and have the doctor or genetic counselor make sure they send the requisition to the right place.
Unfortunately "chromosomally normal" doesn't mean there's nothing genetically wrong. Chromosomal studies are very useful and informative for some cases, but they can't give you a high resolution analysis of all the genes. When the chromosomal analysis is normal and we want to further investigate possible gene deletions/duplications some doctors may request another test called CGH (comparative genomic hybridization). It can detect genetic abnormalities that are too small to be seen by conventional chromosomal studies."

J said...

I think I accidently rejected this comment from a cytogenics technologist when I actually meant to publish it. I thank the professional who took the time out to comment and I am sorry for the delay of publication. Here is the comment as cut an pasted from my email:

One Cytogentics technologist: "It is possible that the lab thought the doctor ordered chromosomal studies again... Just a blind guess... they wouldn't suggest it and then give you that answer. Sometimes the SNRPN studies are not done by the cytogenetics lab. You can ask for it again and have the doctor or genetic counselor make sure they send the requisition to the right place.
Unfortunately "chromosomally normal" doesn't mean there's nothing genetically wrong. Chromosomal studies are very useful and informative for some cases, but they can't give you a high resolution analysis of all the genes. When the chromosomal analysis is normal and we want to further investigate possible gene deletions/duplications some doctors may request another test called CGH (comparative genomic hybridization). It can detect genetic abnormalities that are too small to be seen by conventional chromosomal studies."

J said...

The correct spelling is cytogenetics technologist.