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Research Article
De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
  1. L Telvi,
  2. J M Pinard,
  3. R Ion,
  4. P M Sinet,
  5. A Nicole,
  6. J Feingold,
  7. O Dulac,
  8. A Pompidou,
  9. G Ponsot
  1. Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France.

    Abstract

    We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.

    https://doi.org/10.1136/jmg.29.10.747

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