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Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver–Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely
  1. Thomas Eggermann1,
  2. Nadine Schönherr1,
  3. Katja Eggermann1,
  4. Hartmut Wollmann2
  1. 1Institute of Human Genetics, RWTH Aachen, Aachen, Germany
  2. 2Children’s Hospital, University of Tübingen, Tübingen, Germany
  1. Correspondence to:
 Dr T Eggermann
 Institute of Human Genetics, RWTH Aachen, Pauwelsstr 30, D-52074 Aachen, Germany; teggermann{at}ukaachen.de

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Silver–Russell syndrome (SRS) is a clinical and genetic heterogeneous malformation syndrome. Patients show intrauterine and postnatal growth retardation (<3rd centile), and numerous additional dysmorphisms such as a relative macrocephaly, a small triangular face, a prominent forehead, clinodactyly V and asymmetry of head, limbs and trunk (for a review, see Hitchins et al1). Several genetic disturbances have meanwhile been described, among them cytogenetic aberrations affecting different chromosomes and maternal uniparental disomy of chromosome 7 in 7–10% of cases. Epimutations of the telomeric imprinting centre region 1 (ICR1) in 11p15 can be detected in at least 30% of cases (for a review, see Eggermann …

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