A case of insertional translocation resulting in partial trisomy 16p

This report concerns the case of a boy with partial trisomy 16p resulting f rom the insertional translocation of the short arm of chromosome 16 into th e long arm of chromosome 1 in his father. He was referred for genetic testi ng because of mental retardation, short stature, microcephaly, seizures and multiple dysmorphic features. Chromosome analysis performed in the child d emonstrated the presence of additional material in the long arm of chromoso me 1. Paternal high resolution chromosome analysis and fluorescence in situ hybridisation revealed the following karyotype: 46,XY,ins(1;16)(q42;p13.1p 13.3), while the karyotype of the boy is 46,XY,der(1),ins(1;16)(q42;p13.1p1 3.3)pat. This is the first reported case of partial trisomy 16p due to pate rnal insertional translocation. (C) 2000 Editions scientifiques et medicale s Elsevier SAS.