Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features

Whereas in the great majority of autosomal duplications/deficiencies a clin ically recognizable dysmorphic sydrome is present, distal 3p duplication is not associated with major dysmorphic signs. We present the clinical data a nd molecular cytogenetic findings in two non-related patients. Diagnosis wa s made in a female child at the age of 5 months because of psychomotor reta rdation and slight dysmorphism. She also presented hydronenosis and develop s no speech at the age of almost 4 years. Her partial trisomy is the result of an inverted duplication 3p22 --> 3pter (dup(3)(pter --> p26::p22(p26::p 26 --> qter)). An adult woman was diagnosed at the of 80 years only on the basis of mental retardation and poor speech development, but without eviden t dysmorphism. In this patient the partial 3p trisomy is the unbalanced pro duct of a 3p/17p translocation: t(3:7)(p253:p133).