A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization.
A small marker chromosome was identified as an X-derived ring chromosome by in situ hybridization with a biotinylated X-chromosome specific a-satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding.
Koch
J
J
Institute of Human Genetics, University of Aarhus, Denmark.
Kølvraa
S
S
Hobolt
N
N
Petersen
G B
GB
Willard
H F
HF
Waye
J S
JS
Gregersen
N
N
Bolund
L
L
D002503:Centromere / Q000032:analysis; D002869:Chromosome Aberrations; D004276:DNA, Satellite; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
D004276:DNA, Satellite; D005819:Genetic Markers