Partial 8p- syndrome.
A terminal deletion in the short arm of chromosome 8 (:p21 leads to qter) was found in a two years old girl with dysmorphic craniofacial features and developmental retardation. Clinical features are compared with previously published cases and suggest a recognizable syndrome.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007621:Karyotyping