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J Med Genet 1978;15:154-157 doi:10.1136/jmg.15.2.154
  • Research Article

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.

  1. J F Mattei,
  2. M G Mattei,
  3. J Coignet,
  4. F Giraud

      Abstract

      An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.

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