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Research Article
Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.
  1. C Stoll,
  2. D Chognot,
  3. A Halb,
  4. J C Luckel
  1. Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.

    Abstract

    Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

    https://doi.org/10.1136/jmg.30.5.433

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