Article Text

PDF

Tetrasomy 9p confirmed by GALT.
  1. P Balestrazzi,
  2. G Croci,
  3. C Frassi,
  4. F Franchi,
  5. G Giovannelli

    Abstract

    We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case with those of previously reported patients, tetrasomy 9p appears to be a distinctive and clinically recognisable malformation syndrome.

    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.