rss
J Med Genet 2007;44:e77 doi:10.1136/jmg.2007.049130
  • Correspondence

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
  • Received 12 January 2007
  • Accepted 18 January 2007
  • Revised 12 January 2007

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 …

[Full text of this article]

This Article

  1. Extract
  2. Full text
  3. PDF

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.