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Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome
  1. H Bullman1,
  2. M Lever1,
  3. D O Robinson1,2,
  4. D J G Mackay1,2,
  5. S E Holder3,
  6. E L Wakeling3
  1. 1
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
  2. 2
    Human Genetics Division, University of Southampton, Southampton, UK
  3. 3
    The North West Thames Regional Genetics Service (Kennedy Galton Centre), Northwick Park & St Marks NHS Trust, Harrow, Middlesex, UK
  1. H Bullman, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK; Hilary.Bullman{at}salisbury.nhs.uk

Abstract

Silver–Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5–10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11.

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Footnotes

  • Competing interests: None declared.

  • Patient consent: Parental informed consent was obtained for publication of the patient’s details in this report.

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