De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

Lindsay C. Burrage, Richard E. Person, Angela Flores, Maria Theresa M. Villanos, Weimin Bi, Joanna Wiszniewska, Carlos A. Bacino

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Prader-Willi syndrome is caused by the lack of paternal contribution for the imprinted 15q11-q13 region that originates through a number of mechanisms such as paternal deletion of 15q11-q13, maternal uniparental disomy, or by an imprinting defect due to epimutations in the paternal imprinting center. In the present report, we describe a female patient with complex maternal uniparental trisomy for the 15q11-q13 Prader-Willi syndrome critical region due to a de novo interstitial duplication of 15q11-q13 region that is present in one of the maternal homologs. As a result, the patient has three maternally derived copies of the Prader-Willi syndrome critical region and absence of paternal 15 contribution and thus, presents with a Prader-Willi syndrome phenotype with risk for developing additional phenotypes (e.g., autism and psychiatric phenotypes) characteristic of maternally derived duplications of this region. We suggest that this is a rather unique mechanism leading to Prader-Willi syndrome that has not been previously reported.

Original languageEnglish (US)
Pages (from-to)2557-2563
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
DOIs
StatePublished - Oct 1 2012

Keywords

  • 15q11-q13 duplication
  • Prader-Willi Syndrome
  • Uniparental trisomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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