Maternal uniparental disomy 7 in Silver-Russell syndrome.
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.
Preece
M A
MA
Institute of Child Health, University of London, UK.
Price
S M
SM
Davies
V
V
Clough
L
L
Stanier
P
P
Trembath
R C
RC
Moore
G E
GE
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D018598:Minisatellite Repeats / Q000235:genetics*; D010334:Paternity; D010375:Pedigree; D013577:Syndrome
D004247:DNA