Chromosome 7q22-q31 duplication: Report of a new case and review

We report on a girl with psychomotor retardation, growth retardation, micro cephaly, frontal bossing, large ears, small nose, high arched and narrow pa late, short neck, and generalized hirsutism, Cytogenetic analysis in additi on to fluorescent in situ hybridization (FISH) and comparative genomic hybr idization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplicatio n. Comparison with other reported cases shows some resemblance but insuffic ient to enable us to establish a definite syndrome with specific clinical m anifestations, The importance in better analyzing further cases by new mole cular cytogenetics techniques is raised. (C) 2000 Wiley-Liss, Inc.