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

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.

• Authors: Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Tammy Tsuchida, Beth A Pletcher, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Kurt Hirschhorn, Peter Warburton, Alan Shanske
• Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med) Vol. 14 Issue 9 Pg. 811-8 (Sep 2012) ISSN: 1530-0366 [Electronic] United States
• PMID: 22653535 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

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