title: Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
abstract: We report on a patient with atypical Silver-Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile hypercalcemia caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome. This case highlights the utility of SNP microarray technology as an accessible tool for the diagnosis of mUPD7 in atypical cases. We propose that depending on the balance of iso- and heterodisomic segments in a particular patient, mUPD7 may result in a range of phenotypes not confined to classic Silver-Russell syndrome.
authors.affiliation: Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: Zornitza
authors.initials: Z
authors.lastname: Stark
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
authors.forename: Damien L
authors.initials: DL
authors.lastname: Bruno
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D010641:Phenotype; D049031:Sarcoglycans / Q000235:genetics; D056730:Silver-Russell Syndrome / Q000175:diagnosis / Q000235:genetics*; D024182:Uniparental Disomy
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans