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J Med Genet 1985;22:283-287 doi:10.1136/jmg.22.4.283
  • Research Article

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.

  1. J L Watt,
  2. I A Olson,
  3. A W Johnston,
  4. H S Ross,
  5. D A Couzin,
  6. G S Stephen

      Abstract

      A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.

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