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  • Title: A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome.
    Author: Romain DR, Columbano-Green LM, Parfitt RG, Chapman CJ, Smythe RH, Gebbie OB.
    Journal: Clin Genet; 1985 Aug; 28(2):166-72. PubMed ID: 4042400.
    Abstract:
    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.
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