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Maternal uniparental disomy 7 in Silver-Russell syndrome

Preece, MA; Price, SM; Davies, V; Clough, L; Stanier, P; Trembath, RC; Moore, GE; (1997) Maternal uniparental disomy 7 in Silver-Russell syndrome. J MED GENET , 34 (1) 6 - 9.

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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 either than 7 led to their exclusion from further study. The probands were clinically mild and symmetrical, but showed ma gross clinical differences from the 30 patients with chromosome 7 derived from bosh parents.

Type: Article
Title: Maternal uniparental disomy 7 in Silver-Russell syndrome
Keywords: Silver-Russell syndrome, maternal uniparental disomy, chromosome 7, intrauterine growth retardation, CHROMOSOME-7, GROWTH, ISODISOMY, STATURE
URI: http://discovery.ucl.ac.uk/id/eprint/141017
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