SILVER-RUSSELL SYNDROME AND EXCLUSION OF UNIPARENTAL DISOMY

Recently, maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver-Russell syndrome sporadic cases, yet t he etiology of the remaining cases is unclear. Two cases with Silver-R ussell syndrome and a balanced translocation involving the 17q25 had b een reported. We looked for evidence of genomic imprinting due to unip arental disomy 17 in seven patients with sporadic Silver-Russell syndr ome and their parents. Additionally, chromosomes 7, 8, 11 and 20 were studied. Uniparental disomy was ruled out for all these chromosomes in six of seven families; one family was informative only for chromosome 17. Not-withstanding our negative results, it is still possible that uniparental disomy plays a part in this syndrome. A mutation in a Mend elian gene in 17q25 could also account for the Silver-Russell syndrome etiology.