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Objective To investigate the clinical phenotype and genetic effect of the Wolf-Hirschhorn syndrome.Methods Conventional chromosome analysis of peripheral blood lymphocytes from the proband and her parents were cultured routinely for the karyotype analysis with G banding.Results The karyotypes of the proband and her parents were 46,XX, 1qh+,del(4)(p15-ter) de novo and normal, respectively.Conclusion The proband was considered to be due to de novo terminal deletions and a new resource for analyzing the Wolf-Hirschhorn syndrome.