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Case Reports
De novo tandem duplication 17p11→cen
  1. Z Docherty*,
  2. M A Hultén*,
  3. M M Honeyman†
  1. *Regional Cytogenetics Laboratory, East Birmingham Hospital, Bordesley Green East, Birmingham B9 5ST.
  2. †Department of Paediatrics, East Birmingham Hospital, Bordesley Green East, Birmingham B9 5ST.

    Abstract

    A dicentric chromosome 17 is described in a 5-year-old girl with minor malformations and severe mental retardation. The anomaly is interpreted as a de novo duplication of band 17p11 and centromere 17.

    http://dx.doi.org/10.1136/jmg.20.2.138

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