You are here

Article Text

Article menu
Download PDFPDF
Research Article
Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.
  1. V Ventruto,
  2. L Sebastio,
  3. G Sebastio,
  4. R V DeMasi,
  5. U Vota,
  6. L Farina,
  7. B Festa

    Abstract

    A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46, XX/47, XX, +r(?). It was not possible to identify the origin of the extra ring chromosome. It is difficult to establish the role of such a cytogenetic finding in the aetiology of the syndrome.

    https://doi.org/10.1136/jmg.14.5.383

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.