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.
Thangavelu
M
M
Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, IL 60611.
Pergament
E
E
Espinosa
R
R
Bohlander
S K
SK
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