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Research Article
Sibs lacking characteristic features of duplication of distal 17q.
  1. S Ohdo,
  2. H Madokoro,
  3. T Sonoda,
  4. K Ohba
  1. Department of Paediatrics, Miyazaki Medical College, Japan.

    Abstract

    Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.

    https://doi.org/10.1136/jmg.26.7.465

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