title: [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].
abstract: The authors report the frequency and the clinical signs of uniparental disomy of chromosome 7 in Silver-Russell syndrome patients. A cohort of 73 families were typed with Short Tandem Repeat markers from chromosomes 7. In 6 patients maternal uniparental disomy 7 (UPD7) was detected. Summarising their data and those from the literature, an overall frequency of maternal uniparental disomy 7 of approximately 10% can be estimated. Allelic distribution in two of their maternal uniparental disomy 7 families indicates complete isodisomy whereas allelic patterns in the other four families are consistent with partial and complete heterodisomy, respectively. The clinical features of maternal uniparental disomy 7 patients do not show any deviation from the non-uniparental disomy 7 patients. Additionally, there was not hint for possible influences of iso- or heterodisomy, possibly associated with different stages of mosaicism. Their results demonstrate the necessity to screen SRS patients for UPD7 although the effect of UPD7 cannot be correlated to the SRS phenotype yet. Furthermore, an association between UPD for chromosomes other than 7 and SRS seems to be negligible. Vice versa, maternal UPD7 is not detectable in non-SRS patients. Therefore, testing for maternal UPD7 can be restricted to SRS families, searching for other UPDs in this population does not seem to be reasonable. Additionally, cytogenetic analysis should also be performed in SRS patients: identification of commonly involved chromosomal regions should allow narrowing down a SRS-relevant region.
authors.affiliation: Institute of Human Genetics, Technical University of Aachen, Németország.
authors.forename: S
authors.initials: S
authors.lastname: Mergenthaler
authors.forename: M
authors.initials: M
authors.lastname: Dobos
authors.forename: H
authors.initials: H
authors.lastname: Wollmann
authors.forename: K
authors.initials: K
authors.lastname: Eggermann
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009035:Mothers; D010641:Phenotype; D013577:Syndrome; D024182:Uniparental Disomy