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Short report
Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p
  1. Jan Wahlströma,
  2. Anna Ullera,
  3. Tonnie Johannessona,
  4. Deborah Holmqvista,
  5. Catarina Darnforsa,
  6. Mihailo Vujica,
  7. Bernt Tonnbyb,
  8. Bengt Hagbergc,
  9. Tommy Martinssona
  1. aDepartments of Clinical Genetics, Sahlgrenska University Hospital/East, S-416 85 Gothenburg, Sweden, bDepartment of Paediatrics, Halmstad Hospital, Sweden, cDepartment of Paediatrics, Sahlgrenska University Hospital/East, S-416 85 Gothenburg, Sweden
  1. Dr Wahlström.

Abstract

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.

  • chromosome 3
  • deletion
  • Rett syndrome

https://doi.org/10.1136/jmg.36.4.343

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