Tuesday, July 15, 2008

What is a 1p36 deletion?

What am I trying to raise awareness of?

1p36 deletion syndrome is a chromosome disorder where the end of the short arm of one of the two chromosome 1s has been lost. This chromosome disorder was first described in the late 1990's and early 2000's. The diagnosis frequently requires confirmation by FISH testing. The majority of children with 1p36 deletion syndrome did not acquire their chromosome disorder from their parents. However, a study showed that three out of sixty-two children do, and in those cases one parent has a balance rearrangement of their own chromosomes. This rearrangement risks becoming unbalanced when eggs or sperm are created.

Chromosome 1p36 deletion syndrome can also be called "monosomy 1p36". Monosomy 1p36 is considered to be one of the commonest chromosome deletion syndromes. The incidence of monosomy 1p36 has been estimated to be 1 in 5,000 to 1 in 10,000 live-born children. To date, more females than males have been reported.

If you want the genetic garble you should check out;

  • http://en.wikipedia.org/wiki/1p36_deletion_syndrome
I'm more interested in looking on the ways they are improving the daily quality of their lives & what more can be done to help make it even better. We are all responsible to keep informed and help our fellow man kind when needed. I just wish there was more compassion in the world. But I refuse to be discouraged because I see the wonderful things that Tru is capable of. And as soon as I figure the video thing I'll share more of Tru's playful moments instead of venting about the screaming.


Jenny said...

Hey sure looks like you quit blogging about the same time as me. LOL would love to see some pics.

shashank said...

Here is a link to more information about the genetics of 1p36 Deletion Syndrome that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/1p36_Deletion_Syndrome/704. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA