Patau Syndrome?

[ihatescience]

Hey guys,

I was reading about Patau Syndrome and it said that it can manifest in three karyotypes:

trisomy 13 type: 47,XX, +13;

Translocation type: 46,XX,+13,der(13;14)(q10;q10);

Mosaic type: 46,XX/47,XX, +13

So the "translocation" type doesn't make sense to me: material is lost from the long arm of chromosome 13 and replaced by material from the long arm of chromosome 14? Wouldn't that add more chromosome 14 genetic material?

ie: Down Syndrome Translocation type is denoted at 46,XX,der(14;21)(q10;q10),+21 [loss of material from chromosome 14, replaced with genetic material from chromosome 21, which makes sense because it's a disorder of extra chromosome 21 material]

Thanks to anyone who can clear up this confusion!!

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[penvic]

Speaking as a student AND a mom to a 13 year old little boy with Trisomy 13 balanced translocation 5 and 13, there is an "exchange" of material. In our case there's a reciprocal translocation...no genetic material missing...hence the balanced as opposed to the usual unbalanced translocation. This concept was something that took me a long time to understand. The 13/14 translocation is the Robertsonian translocation...my son's is called a Snodgrass. I'm not sure if this helps you or not? But...Dr. John Carey at the University of Utah is medical advisor to S.O.F.T. (a medical/support organization for families with children with trisomy disorders) is a great resource. Contact him at: [email protected]
Also there's S.O.F.T. at: www.trisomy.org and www.livingwithtrisomy13.com
My son is featured on the last site.
Please visit all of these sites for more information and also many many examples of surviving children such as mine. I also would add that he is ambulatory, self orally feeds, communicates using PECS, sign and a Tech Talk and he will be a freshman in high school this fall in a multi-varied exceptionalities program.