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Maternal uniparental disomy 7 in Silver-Russell syndrome.
  1. M A Preece,
  2. S M Price,
  3. V Davies,
  4. L Clough,
  5. P Stanier,
  6. R C Trembath,
  7. G E Moore
  1. Institute of Child Health, University of London, UK.

    Abstract

    Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tandem repeat (VNTR) or microsatellite repeat markers and have identified two patients with maternal uniparental disomy of chromosome 7 (mUPD7). In one family, inconsistent inheritance of paternal alleles of markers on chromosomes other than 7 led to their exclusion from further study. The probands were clinically mild and symmetrical, but showed no gross clinical differences from the 30 patients with chromosome 7 derived from both parents.

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