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Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
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Published on: September 19, 2019

Russell-Silver syndrome.

Thomas Eggermann1

  • 1Institute of Human Genetics, Pauwelsstr. 30, D-52074 Aachen, Germany. teggermann@ukaachen.de

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|August 31, 2010
PubMed
Summary
This summary is machine-generated.

Russell-Silver syndrome (RSS) is an imprinting disorder with growth issues. Diagnosis involves genetic testing for chromosome 11p15 and chromosome 7, with varying recurrence risks.

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Area of Science:

  • Genetics and Epigenetics
  • Developmental Biology
  • Pediatric Endocrinology

Background:

  • Russell-Silver syndrome (RSS) is an imprinting disorder presenting with intrauterine and postnatal growth retardation, relative macrocephaly, and facial asymmetry.
  • While distinct from Prader-Willi and Angelman syndromes, RSS shares the characteristic of being an imprinting disorder.
  • Genetic and epigenetic abnormalities are identified in approximately 50% of RSS patients.

Purpose of the Study:

  • To outline the diagnostic workup for Russell-Silver syndrome.
  • To discuss the genetic and epigenetic causes of RSS.
  • To explore genotype-phenotype correlations and pathophysiological mechanisms in RSS.

Main Methods:

  • Genetic and epigenetic testing, including methylation analysis for chromosome 11p15.
  • Analysis of maternal uniparental disomy of chromosome 7 (UPD(7)mat).
  • Molecular karyotyping to detect chromosomal aberrations.

Main Results:

  • Up to 5% of RSS patients have UPD(7)mat, and at least 44% exhibit 11p15 imprinting center 1 (IC) hypomethylation.
  • (Sub)microscopic chromosomal aberrations are found in 1-2% of patients.
  • Approximately 7% of patients with 11p15 hypomethylation also show additional imprinted loci hypomethylation.

Conclusions:

  • Diagnostic workup for RSS should include comprehensive genetic and epigenetic analyses.
  • Recurrence risk is generally low but can increase with familial epimutations or chromosomal rearrangements.
  • While UPD(7)mat patients often present a milder phenotype, genotype-phenotype correlations in RSS are still under investigation.