Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome

Nicole L. Hoppman-Chaney, D. Brian Dawson, Lai Nguyen, Sunanda Sengupta, Kara Reynolds, Elizabeth McPherson, Gopalrao Velagaleti

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Extra copies of the Prader-Willi-Angelman syndrome critical region (PWASCR) have been shown to have detrimental phenotypic effects depending on the parent of origin. Hexasomy for the PWASCR is rare; only 6 cases have been described to date. We report on a 15-year-old girl referred for developmental delay and seizures with a mosaic tricentric small marker chromosome (SMC) 15 identified by routine G-banding chromosome studies. C-banding and FISH confirmed the presence of three chromosome 15 centromeres as well as four copies of the PWASCR on the SMC in approximately 60% of interphase cells. Microsatellite genotyping documented maternal inheritance of the SMC, and methylation-sensitive multiplex ligation-dependent PCR amplification (MS-MLPA) showed that the extra copies of the PWASCR contained on the marker chromosome bear a methylation pattern similar to a normal maternal chromosome, implying maternal inheritance. These findings are consistent with the patient's phenotype as paternal inheritance of such amarker chromosome is thought to be benign. However, this patient's phenotype is the mildest described to date and may be a result of mosaicism for the SMC.

Original languageEnglish (US)
Pages (from-to)2034-2038
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number8
DOIs
StatePublished - Aug 1 2010
Externally publishedYes

Keywords

  • Hexasomy
  • Prader-Willi-Angelman syndrome critical region
  • Supernumerary marker chromosome 15
  • Tricentric

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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