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Genet. mol. res. (Online) ; 5(2): 399-406, 2006. tab, ilus
Article in English | LILACS | ID: lil-442560

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.


Subject(s)
Humans , Female , Child, Preschool , Chromosomes, Human, Y , Mosaicism , Chromosome Breakage/genetics , Turner Syndrome/diagnosis , In Situ Hybridization, Fluorescence , Sequence Analysis, DNA , Karyotyping , Molecular Sequence Data , Polymerase Chain Reaction , Base Sequence , Turner Syndrome/genetics , Turner Syndrome/surgery
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