Molecular analysis of an idic(Y)(qter -->p11.32::p11.32-->qter) chromosome from a female patient with a complex karyotype.
A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the Y chromosome. The rearrangement was a result of a meiosis I exchange between sister chromatids at the pseudoautosomal region, followed by centromere misdivision at meiosis II. Due to instability of the dicentric Y chromosome, new cell lines later arose because of mitotic errors occurring during embryonic development. Physical examination revealed a normal female phenotype without genital ambiguity, a normal uterus and rudimentary gonads which were surgically removed.
Fernandez
R
R
Department of Psychobiology, University of A Coruña, Coruña, Spain.
Pasaro
E
E
D001483:Base Sequence; D002675:Child, Preschool; D019457:Chromosome Breakage / Q000235:genetics*; D041322:Chromosomes, Human, Y; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008969:Molecular Sequence Data; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery