Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31.

Abstract

Purpose: The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome.

Methods: We carried out comprehensive clinical evaluation of four patients who were identified with a supernumerary marker chromosome. The marker chromosome was characterized by G-banding, fluorescence in situ hybridization, single nucleotide polymorphism oligonucleotide microarray analysis, and immunofluorescence with antibodies to centromere protein C.

Results: The marker chromosomes were categorized as being neocentric with all showing tetrasomy for regions distal to 15q25 and the common region of overlap being 15q26→qter.

Conclusion: Tetrasomy of 15q26 likely results in a distinct syndrome as the patients with tetrasomy 15q26 share a strikingly more consistent phenotype than do the patients with Shprintzen-Goldberg syndrome, who show remarkable clinical variation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arachnodactyly / diagnosis*
  • Arachnodactyly / genetics
  • Arachnodactyly / pathology
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosome Banding
  • Chromosomes, Human, Pair 15*
  • Craniosynostoses / diagnosis*
  • Craniosynostoses / genetics
  • Craniosynostoses / pathology
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics
  • Marfan Syndrome / pathology
  • Phenotype
  • Syndrome
  • Tetrasomy / genetics*
  • Tetrasomy / pathology

Substances

  • Chromosomal Proteins, Non-Histone
  • Genetic Markers
  • centromere protein C

Supplementary concepts

  • Shprintzen Golberg craniosynostosis