Re: Atypical CMTIA duplications in a large cohort of CMTIA families

[Guest guest]

It means there is a smaller, rearanged mutation in some Czech CMT 1A families.

That this CMT 1A was found in new genetic testing - the new duplication had

lesser copies 2, 1 or 1/2. This is not the typical CMT pattern.

in layman terms what does this mean???

tina

cmt1a

michigan

In conclusion: in more than 2 % of cases CMTIA duplication may be of atypical

size and it must be mediated by other mechanisms or regions than the

REP-elements. Such cases would probably be missed by methods using only the

junction fragment detection. Use of enough

microsatelite markers is necessary for reliable detection of all CMTlA

duplication and additional methods as MLPA or Q-RT-PCR should be available in

the laboratory for atypical cases.

_________________________________________________________________

Windows Live™ SkyDrive™: Store, access, and share your photos. See how.

http://windowslive.com/Online/SkyDrive?ocid=TXT_TAGLM_WL_CS_SD_photos_072009