A de novo 11p13 microduplication in a patient with some features invoking silver-russell syndrome

O. Palumbo, T. Mattina, P. Palumbo, M. Carella, C. S. Perrotta

Research output: Contribution to journalArticle

Abstract

Patients with Silver-Russell syndrome (SRS) show an intrauterine and postnatal growth restriction associated with a variable spectrum of additional features. Genetic or epigenetic alterations on chromosomes 7 and 11 can be detected in several SRS patients; however, a large fraction of cases remains with unknown genetic etiology. Here, we describe the clinical and molecular findings of a patient with a phenotype invoking SRS showing intrauterine and postnatal growth retardation, psychomotor retardation, relative macrocephaly, slightly triangular face with pointed chin, clinodactyly, and a slight body asymmetry, in whom single-nucleotide polymorphism oligonucleotide array analysis led to the identification of a de novo 11p13 duplication containing many genes that could be functionally related with the observed clinical features. Many deletions of chromosome 11p13, resulting in WAGR (Wilms tumor, aniridia, genital anomalies, mental retardation) syndrome, have been described, while only few duplications spanning the same region have been reported so far. To our knowledge, this is the first reported case presenting a SRS carrier of an 11p13 duplication. We propose candidate genes for the observed traits, and in particular, we discuss the possible role of the involvement of 2 noncoding RNAs in the etiology of the phenotype.

Original languageEnglish
Pages (from-to)11-18
Number of pages8
JournalMolecular Syndromology
Volume5
Issue number1
DOIs
Publication statusPublished - Jan 2014

Keywords

  • 11p13 microduplication
  • Silver-Russell syndrome
  • Single-nucleotide polymorphism array analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A de novo 11p13 microduplication in a patient with some features invoking silver-russell syndrome'. Together they form a unique fingerprint.

  • Cite this