Published Journals / Education

J Obstet Gynaecol Can. 2014 Jan;36(1):64-83.  Pregnancy outcomes after assisted human reproduction.

The relative risk for an imprinting phenotype such as Silver-Russell syndrome, Beckwith-Wiedemann syndrome, or Angelman syndrome is increased in the assisted reproduction population, but the actual risk for one of these phenotypes to occur in an assisted pregnancy is estimated to be low, at less than 1 in 5000. The exact biological etiology for this increased imprinting risk is likely heterogeneous and requires more research.

Epigenetic anomalies in childhood growth disorders.

Several clinical studies demonstrated that assisted reproductive technology significantly increased the risk of human imprinting diseases including BWS and RSS, suggesting that the environment may favor imprinting disorders.

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature. 

This study provides further evidence that maternally inherited duplications of 11p15.5 result in a SRS phenotype that includes short stature and other variable features. The methylation status of the extra copy of the duplicated region of 11p15.5 ultimately predicts the resulting phenotype.

In 5-10% of the patients the phenotype is caused by maternal UPD 7, and 38-64% of the patients present with hypomethylation at the imprinting center region 1 (ICR1) on 11p15.5.  Chromosomal rearrangements in patients with clinical features of Russell-Silver syndrome

11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations: http://jcem.endojournals.org/content/92/8/3148.abstract

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci: http://hmg.oxfordjournals.org/content/18/24/4724.full

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation:
http://jmg.bmj.com/content/48/5/308.abstract

Microduplication of the ICR2 domain at Chromosome 11p15 and familial Silver-Russell Syndrome:
http://www.ncbi.nlm.nih.gov/pubmed/21910219

Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan:
Family Caregiver Distress

FDA and Rare Disease :  Cure The Process.org. Ultra Act Legislation

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome: http://www.ncbi.nlm.nih.gov/pubmed/22248018

In the British Journal of Ophthalmological findings for RSS: Ophthalmological Findings in Russell-Silver Syndrome 

Could Limb Lengthening healing in Children with Russell-Silver Syndrome be quicker than other patients? A published study from March 2013 HERE – study includes well known Drs. Goldman and Harbison.

 

 

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