title: Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis.
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.
authors.affiliation: Genetics Unit, Meir General Hospital, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Amiel
authors.forename: M
authors.initials: M
authors.lastname: Fejgin
authors.forename: Z
authors.initials: Z
authors.lastname: Appelman
authors.forename: I
authors.initials: I
authors.lastname: Shapiro
authors.forename: E
authors.initials: E
authors.lastname: Gaber
authors.forename: A
authors.initials: A
authors.lastname: Bachar
authors.forename: R
authors.initials: R
authors.lastname: Zamir
authors.forename: I
authors.initials: I
authors.lastname: Kedar
authors.forename: M
authors.initials: M
authors.lastname: Golbus
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers