High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis.

A higher incidence of Y-chromosome microdeletions was found on gonadal DNA than on peripheral blood lymphocyte DNA and on streak gonads than on dysgenetic testis in 11 patients with 45,X/46,XY gonadal dysgenesis. It is probable that an association between Y-chromosome microdeletions and severity of the phenotype in 45,X/46,XY patients exists.
AuthorsFrancisco Alvarez-Nava, Herminia Puerta, Marisol Soto, Lennie Pineda, Angel Temponi
JournalFertility and sterility (Fertil Steril) Vol. 89 Issue 2 Pg. 458-60 (Feb 2008) ISSN: 1556-5653 [Electronic] United States
PMID17531235 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA
  • Chromosome Deletion
  • Chromosomes, Human, Y
  • DNA (analysis)
  • Female
  • Gene Frequency
  • Gonadal Dysgenesis, Mixed (genetics, metabolism)
  • Gonads (metabolism)
  • Humans
  • Male
  • Mosaicism

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