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Case Reports
Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)
  1. Heather E Dockery*,
  2. H C Neale*,
  3. P H Fitzgerald†
  1. *Cytogenetics Unit, Nelson Hospital and Ngawhatu Hospital, Nelson
  2. †Cytogenetics Unit, Christchurch Hospital, Christchurch, New Zealand

    Abstract

    Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).

    https://doi.org/10.1136/jmg.19.5.380

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