[tri-med] Re: American Journal of Medical Genetics

----- Original Message ----- 
From: "Kim Ihlenfeldt"
> She just has the subterlomeric region of the long arm of chromosome 15. 
> As
> far as the 18 goes, she is trisomic for the 18pter to 18q11.2 (I am just
> copying medical records).

Do you have her exact karyotype? I am a little unclear from what you have 
written - is it a 15 duplication AND an 18 duplication (it would be 
uncommon) or is it a 15 deletion (monosomy) and an 18 duplication? (more 
common)
I just did a quick search and there are quite a few 15q duplication 
articles........
eg
Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally 
Derived Duplication of Proximal 15q.

Parental and chromosomal origins of microdeletion and duplication syndromes 
involving 7q11.23, 15q11-q13 and 22q11.

15q duplication associated with autism in a multiplex family with a familial 
cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

and thats just out of the first 10 of more than 200 that came up. Some will 
be useless because chromosome 15 is also Prader Willi / Angelmans but from a 
quick glance there are a few 15q duplication articles.

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 /Karen \
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