A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique.
The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitive sequence probes unequivocally and rapidly identified the ring to be of X origin.
Crolla
J A
JA
Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, UK.
Llerena
J C
JC
D000293:Adolescent; D002503:Centromere; D002869:Chromosome Aberrations; D015342:DNA Probes; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
D015342:DNA Probes