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Research Article
Monosomy 8p: an easily overlooked syndrome.
  1. A H Bröcker-Vriends,
  2. P D Mooij,
  3. F van Bel,
  4. G C Beverstock,
  5. J J van de Kamp

    Abstract

    Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial dysmorphism or microcephaly or both is stressed.

    https://doi.org/10.1136/jmg.23.2.153

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