Maternal uniparental disomy 7 in Silver-Russell syndrome.

Open Access

1 January 1997

journal article
research article
Published by BMJ in Journal of Medical Genetics

Vol. 34 (1) , 6-9
https://doi.org/10.1136/jmg.34.1.6

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.

Keywords

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