Pure partial trisomy 5q33 -> 5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation

Authors
Paoloni-Giacobino, A Bottani, A Dahoun, SP
Citation
A. Paoloni-giacobino et al., Pure partial trisomy 5q33 -> 5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation, ANN GENET, 42(3), 1999, pp. 166-169
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
3
Year of publication
1999
Pages
166 - 169
Database
ISI
SICI code
0003-3995(1999)42:3<166:PPT5-5>2.0.ZU;2-1
Abstract
A 14-year-old male was referred for evaluation of mental retardation with s hort 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 adja cent-1 segregation of a paternal balanced translocation. Paternal blood kar yotype 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.