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genetics:interpretation:mosaicism:cyto [Retinoblastoma Wiki]
 

Dear Lesley,

we have seen some mosaic cases for cytogeentic deletions but, so far, we did not observe mosacicism for a complex rearrangement. In my opinion, the results are consistent with mosaicism if the karyotype data (number of cells with rearrangement : number of cells without rearrangement) and the FISH data (number of cells with single signal : number of cells with two signals) are compatible (I guess one can use a chi2 test statistic to test for homogneneity).

I would suggest testing microsatellite markers in patient and parents and to obtain DNA from a buccal swab from the patient for this analysis in addition to DNA from blood.

Best wishes, Dietmar

Familial Cancer schrieb:

Dear Dr Lohmann,
I work with Jacqueline Carroll in the Familial Cancer section of the IMVS, Adelaide, mostly testing rare cancers. We have recently processed a patient sample by MLPA that has consistently given a result that is neither conclusively wild type, nor conclusively indicative of a gene deletion. A karyotype done in another laboratory shows a complex rearrangement in 50% of cells scored with the deletion of ~1/3 of the long arm of chromosome 13, FISH using the D13S319 probe showed deletion in 70% of cells. Are these results likely to be consistent with mosaicism? Have you had experience with similar findings?

Regards,
Lesley


Lesley Rawlings (PhD)
Medical Scientist
Molecular Pathology
Institute of Medical & Veterinary Science
Frome Rd
Adelaide SA 5000

(T) +61 8 82223667
(F) +61 8 8222 3146
(E) familialcancer@imvs.sa.gov.au <mailto:familialcancer@imvs.sa.gov.au>
 
genetics/interpretation/mosaicism/cyto.txt · Last modified: 2007/10/11 11:26 by dietmar
 
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