Partial trisomy 1(q42→qter): a new case with a mild phenotype

We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42→qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.