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Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7
Author(s) -
Stark Zornitza,
Ryan Monique M.,
Bruno Damien L.,
Burgess Trent,
Savarirayan Ravi
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33590
Subject(s) - uniparental disomy , phenotype , myoclonus , biology , imprinting (psychology) , genetics , genomic imprinting , chromosome , microarray , snp array , gene , neuroscience , karyotype , single nucleotide polymorphism , gene expression , genotype , dna methylation
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. © 2010 Wiley‐Liss, Inc.