Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping

Yi Ning, Caroline H. Laundon, Evelin Schröck, Philip Buchanan, Thomas Ried

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Spectral karyotyping (SKY) was performed in this prenatal case and led to a quick and accurate determination of the ESAC as chromosome 14 in origin. The SKY finding was confirmed by conventional FISH analysis using a chromosome 14 specific painting probe. Subsequent hybridizations with a centromeric probe and a 14q subtelomeric probe were also performed to further characterize the ESAC. Absence of (TTAGGG)n sequence on the ESAC, determined postnatally, suggested it is a ring chromosome 14. Genetic counselling concerning these findings was provided to the parents who chose to continue the pregnancy. The male infant had no apparent abnormal phenotype at birth.

Original languageEnglish (US)
Pages (from-to)480-482
Number of pages3
JournalPrenatal Diagnosis
Issue number5
StatePublished - May 25 1999

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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