Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14) (q33;p12) translocation
Paoloni-Giacobino, A.; Bottani, A.; Dahoun, S.P.
Annales de Genetique 42(3): 166-169
1999
ISSN/ISBN: 0003-3995 PMID: 10526660 Document Number: 501415
A 14-year-old male was referred for evaluation of mental retardation with short stature and dysmorphic features. His karyotype was 46,XY,der(14)t(5;14)(q33;p12)pat, resulting in a pure partial 5q33-q35 trisomy due to the adjacent-1 segregation of a paternal balanced translocation. Paternal blood karyotype revealed a balanced translocation t(5;14)(q33;p12) retaining Ag-Nors. To date, only two cases of pure partial 5q trisomies spanning this region have been reported. Analysis of these cases and the one we report does not allow the delineation of a specific phenotype.