Maternal uniparental disomy 7 in Silver-Russell syndrome.
AUTOR(ES)
Preece, M A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050838Documentos Relacionados
- Severe Silver-Russell syndrome.
- Medical genetics: advances in brief: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
- A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region
- Cognitive abilities associated with the Silver-Russell syndrome.
- Estudo genético da síndrome de Silver-Russell