Ring chromosome 15: Characterization by array CGH

Ian A. Glass, Katherine A Rauen, Emily Chen, Jillian Parkes, Donna G. Alberston, Daniel Pinkel, Philip D. Cotter

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Ring chromosome 15 [r(15)] is an uncommon finding with less than 50 patients reported. Precise genotype phenotype correlations are problematic because of the difficulties in determining the extent of euchromatic loss, the level of mosaicism, and the influence of the timing of ascertainment. We report two discordant examples of r(15) patients. In the first case, prenatal diagnosis of a de novo r(15) was made during the second trimester: mos 46,XX,r(15)(p11.2q26)[32]/ 45,XX,-15[13]/47,XX,r(15)(p11.2q26)x2[3]/46,XX,dic r(15)(p11.2q26p11.2q26[1]/46,XX[2]. Postnatal follow-up revealed extremely small stature, heart defects, and developmental delay. Patient 2 was a 31-year-old short-statured female who was living independently: 46,XX,r(15)(p11q26). Both cases showed loss of the 15q subtelomeric region by fluorescence in situ hybridization (FISH). To investigate the discordance in phenotypes between the two patients, we undertook array comparative genomic hybridization (array CGH) analyses to more fully characterize the deletions associated with these otherwise structurally indistinguishable r(15) chromosomes from conventional cytogenetic analyses and fluorescence in situ hybridization (FISH) studies. By array CGH, patient 1 showed deletion of multiple contiguous clones predicting an approximately 6 Mb deletion of distal 15q. In contrast, patient 2 showed loss of just the 15q subtelomeric clone and an interstitial clone by array CGH confirming that the severity of the phenotype correlated with the size of the deletion at the molecular level. These cases illustrate the utility of array CGH characterization for determining the size of the associated deletion in ring chromosomes and for facilitating phenotype-genotype correlations.

Original languageEnglish (US)
Pages (from-to)611-617
Number of pages7
JournalHuman Genetics
Volume118
Issue number5
DOIs
StatePublished - Jan 2006
Externally publishedYes

Keywords

  • Array CGH
  • Chromosome 15
  • Genotype phenotype correlation
  • Postnatal phenotype
  • Prenatal diagnosis
  • Ring chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Glass, I. A., Rauen, K. A., Chen, E., Parkes, J., Alberston, D. G., Pinkel, D., & Cotter, P. D. (2006). Ring chromosome 15: Characterization by array CGH. Human Genetics, 118(5), 611-617. https://doi.org/10.1007/s00439-005-0030-z