A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome.
A 32-year-old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46,XX,inv(4) (pter----p14::q12----p14::q12----qter) del (4) (pter----15.33::p15.2----qter). Clinically she does not show the features of the Wolf-Hirschhorn syndrome. Her phenotype and cytogenetic findings are compared with 2 other reported cases of 4p-without Wolf-Hirschhorn syndrome.
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome