Maternal uniparental disomy 7 in Silver-Russell syndrome. Issue 1 (January 1997)

• Record Type: Journal Article
• Authors: Preece, M A; Price, S M; Davies, V; Clough, L; Stanier, P; Trembath, R C; Moore, G E
• Is Part Of: Journal of medical genetics. Volume 34:Issue 1(1997)
• Page Start: 6
• Page End: 9
• Publication Date: 1997-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.1.6
• Languages: English
• ISSNs: 1468-6244

Abstract

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.