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Case Reports
A 13-year-old girl with karyotype 47,XX,+i(22)(qll)
  1. Arabella Smith,
  2. Ian S Fraser,
  3. Rodney P Shearman
  1. Cytogenetics Unit, Oliver Latham Laboratory, Health Commission of New South Wales, Australia
  2. The Department of Obstetrics and Gynaecology, Sydney University, Sydney, Australia

    Abstract

    A 13-year-old girl presented because of abnormal pubertal development. She was found to have an isochromosome of 22 in addition to a normal female chromosome complement. Investigation also showed moderate mental retardation.

    https://doi.org/10.1136/jmg.18.1.61

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