Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation.
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.
Paoloni-Giacobino
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Division of Medical Genetics, CMU, Genève, Suisse.
Bottani
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Dahoun
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SP
D000293:Adolescent; D020090:Chromosome Segregation; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D005220:Fathers; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy