Two unbalanced translocations involving a common 6p25 region in two XY female patients

J. R. Batanian, D. K. Grange, R. Fleming, B. Gadre, J. Wetzel

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Abstract

We report two 46, XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46, XY, der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46, XY, der(13)t(6;13)(p25;q33) karyotype had a male pseudohermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was performed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp duplication or a 13q deletion is reported here for the first time.

Original languageEnglish
Pages (from-to)52-57
Number of pages6
JournalClinical Genetics
Volume59
Issue number1
DOIs
StatePublished - Jan 1 2001

Keywords

  • Chromosomes X, 6, 13
  • Male pseudohermaphrodite
  • Multi-paint flourescent in situ hybridization
  • Sex reversal
  • Unbalanced translocations

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