An accessory marker derived from chromosome 20 and its co‐existence with a mosaic trisomy 20 cell line

Denise A.S. Batista, Cathleen Escallon, Karin J. Blakemore, Gail Stetten

Research output: Contribution to journalArticle


We report a 16‐month‐old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.

Original languageEnglish (US)
Pages (from-to)123-127
Number of pages5
JournalPrenatal Diagnosis
Issue number2
StatePublished - Feb 1995



  • Trisomy 20
  • marker chromosome
  • mosaicism
  • ring chromosome 20

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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