Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization.
We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.
Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, IL 60611.
M
M
Thangavelu
E
E
Pergament
R
R
Espinosa
S K
SK
Bohlander
D000328:Adult; D000649:Amniocentesis; D001483:Base Sequence; D002869:Chromosome Aberrations; D002875:Chromosomes / Q000648:ultrastructure*; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D015342:DNA Probes; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
D015342:DNA Probes