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 the etiology of the remaining cases is unclear. Two cases with Silver-Russell syndrome and a balanced translocation involving the 17q25 had been reported. We looked for evidence of genomic imprinting due to uniparental disomy 17 in seven patients with sporadic Silver-Russell syndrome 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 Mendelian gene in 17q25 could also account for the Silver-Russell syndrome etiology.
Ayala-Madrigal
M L
ML
División de Genética, CIBO, IMSS, Guadalajara, Jalisco, Mexico.
Shaffer
L G
LG
Ramírez-Dueñas
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D009630:Nondisjunction, Genetic; D010641:Phenotype; D013577:Syndrome