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      A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.

      1 , ,
      Journal of medical genetics
      BMJ

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          Abstract

          A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal chromosome as a duplication/deficient X chromosome, 46,Xder X(pter----q28::p11.2----pter). The clinical features are discussed in terms of karyotype/phenotype correlation.

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          Author and article information

          Journal
          J Med Genet
          Journal of medical genetics
          BMJ
          0022-2593
          0022-2593
          Apr 1988
          : 25
          : 4
          Affiliations
          [1 ] Centre for Human Genetics, Sheffield.
          Article
          10.1136/jmg.25.4.264
          1015512
          3367354
          920a4a63-e1b0-41a5-87d4-fa072cabf190
          History

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