R. Fernandez, E. Pasaro
Published: June 27, 2006
Genet. Mol. Res. 5 (2) : 399-406

Cite this Article:
R. Fernandez, E. Pasaro (2006). Molecular analysis of an idic(Y)(qter→p11.32::p11.32→qter) chromosome from a female patient with a complex karyotype. Genet. Mol. Res. 5(2): 399-406.

About the Authors
R. Fernandez, E. Pasaro

Corresponding author
E. Pasaro
E-mail: pspasaro@udc.es

ABSTRACT

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.

Key words: Sex determination, Turner syndrome, 45X, Mosaicism, Dicentric Y.