Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis

A. Amiel*, M. Fejgin, Z. Appelman, I. Shapiro, E. Gaber, A. Bachar, R. Zamir, I. Kedar, M. Golbus

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Five cases of supernumerary marker chromosomes were identified in prenatal diagnosis as derived from chromosomes 18, X, and Y. One unexpected finding was in a case where the PCR was positive for the SRY gene while fluorescence in situ hybridization was positive for two X centromeres. In another case with an X derived supernumerary marker the newborn was phenotypically normal. Two women with fetal mar(18) and mar(Xp) decided to terminate the pregnancy. The fifth pregnancy had a karyotype of 46,XX,-15,+der(15)t(Y:15)(q11,23;p13). A phenotypically normal girl was born at term.

Original languageEnglish
Pages (from-to)103-107
Number of pages5
JournalEuropean Journal of Obstetrics and Gynecology and Reproductive Biology
Volume59
Issue number1
DOIs
StatePublished - Mar 1995
Externally publishedYes

Keywords

  • In situ hybridization
  • Marker chromosome
  • Prenatal diagnosis

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