Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis

G. Calabrese, L. Stuppia, R. Mingarelli, P. Guanciali Franchi, R. Peila, E. Morizio, A. Antonucci, G. Palka

Research output: Contribution to journalArticle

Abstract

Two non-familial extra supernumerary abnormal chromosomes (ESAC) were detected in fetuses monitored by midtrimester amniocentesis. Characterization of these ESACs was carried out using conventional cytogenetic analysis, fluorescence in situ hybridization, and DNAse I hypersensitivity. Based on these studies it was concluded that the two ESACs were derived respectively from chromosomes 14/22 and isodicentric chromosome 15. Based on cytogenetic results it was argued that inconsistent phenotypic effect was associated with the two aneuploidies. This optimistic view was confirmed at birth of unaffected babies and unremarkable follow up at 6 and 12 months.

Original languageEnglish
Pages (from-to)135-138
Number of pages4
JournalAnnales de Genetique
Volume37
Issue number3
Publication statusPublished - 1994

Keywords

  • DNAse I hypersensitivity
  • ESAC
  • FISH

ASJC Scopus subject areas

  • Genetics

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    Calabrese, G., Stuppia, L., Mingarelli, R., Guanciali Franchi, P., Peila, R., Morizio, E., Antonucci, A., & Palka, G. (1994). Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis. Annales de Genetique, 37(3), 135-138.