Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
نویسندگان
چکیده
منابع مشابه
Epigenotype–phenotype correlations in Silver–Russell syndrome
BACKGROUND Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5-10% and up to 60% of patients with SRS, respectively. As many features are non-...
متن کاملParthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype
INTRODUCTION We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X ...
متن کاملSevere Silver-Russell syndrome.
Three children are described with severe Silver-Russell syndrome. Major medical problems occurred in the first two years of life in all three. Silver-Russell syndrome should be considered in the differential diagnosis of children with severe pre- and postnatal growth deficiency.
متن کاملGenomic characterisation of C7orf10 in Silver-Russell syndrome patients.
Silver-Russell syndrome (SRS) describes a uniform malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR/PGR), asymmetry of the head and limbs, a small triangular face, and other less constant features. The majority of the 400 cases described so far occurred sporadically, but some familial cases have been reported. A subset of 7-10% of SRS patients shows mate...
متن کاملSilver - Russell syndrome . Part II
Features of the Silver-Russell syndrome (SRS) may overlap with other entities characterized by intrauterine growth restriction, making clinical diagnosis often ambiguous. Numerous scoring systems have been continuously modified, based on anthropometric parameters, dysmorphic features and health issues, including growth and gastrointestinal disturbances. Clinical criteria serve for screening pat...
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ژورنال
عنوان ژورنال: Clinical Epigenetics
سال: 2020
ISSN: 1868-7075,1868-7083
DOI: 10.1186/s13148-020-00865-x