Trisomy 9p with an isochromosome of 9p

摘要

An$$18 {text{raise.5exhbox{$scriptstyle 1$}kern-.1em/ kern-.15emlower.25exhbox{$scriptstyle 2$} }}$$-year-old female is described with moderately severe mental retardation, the phenotype of the trisomy 9p syndrome, and an isochromosome for the short arm of a chromosome 9, contained in an unique karyotype, 46,XX,-9,t(7q9q),+ iso 9p.