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. 1997 Jan;34(1):6–9. doi: 10.1136/jmg.34.1.6

Maternal uniparental disomy 7 in Silver-Russell syndrome.

M A Preece 1, S M Price 1, V Davies 1, L Clough 1, P Stanier 1, R C Trembath 1, G E Moore 1
PMCID: PMC1050838  PMID: 9032641

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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Selected References

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