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Research Article
Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
  1. M J Seller,
  2. L S Chitty,
  3. H Dunbar
  1. South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.

    Abstract

    Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.

    https://doi.org/10.1136/jmg.30.11.970

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