Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis
نویسندگان
چکیده
Silver–Russell Syndrome in a Patient with Somatic Mosaicism for upd(11)mat Identified by Buccal Cell Analysis Ho-Ming Luk, Fai-Man Ivan Lo, Shinichiro Sano, Keiko Matsubara, Akie Nakamura, Tsutomu Ogata,* and Masayo Kagami** Department of Health, Clinical Genetic Service, Hong Kong, SAR, China Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
منابع مشابه
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
Maternal uniparental disomy for chromosome 7 (UPD7) may present with a characteristic phenotype reminiscent of Silver-Russell syndrome (SRS). Previous studies have suggested that approximately 10% of SRS patients have maternal UPD7. We describe a girl with a mos47,XX,+mar/46,XX karyotype associated with the features of SRS. Chromosome painting using a chromosome 7 specific probe pool showed tha...
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Although uniparental disomy often results from the postzygotic rescue of a meiotic non-disjunction event, mosaicism is usually confined to the placenta. We describe a girl with Prader-Willi syndrome (PWS) who is mosaic for normal cells and cells with maternal uniparental disomy 15 [upd(15)mat] in blood and skin. Somatic mosaicism was confirmed by cloning and genotyping of skin fibroblasts. X in...
متن کاملPaternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia
BACKGROUND Loss of function mutations in the genes encoding the pancreatic β-cell ATP-sensitive potassium (KATP) channel are identified in approximately 80% of patients with diazoxide unresponsive hyperinsulinemic hypoglycemia (HH). For a small number of patients HH can occur as part of a multisystem disease such as Beckwith-Wiedemann syndrome (BWS). In approximately 20% of patients, BWS result...
متن کاملThe maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
BACKGROUND Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd...
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 ...
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عنوان ژورنال:
دوره 170 شماره
صفحات -
تاریخ انتشار 2016