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Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review.

Abstract
A male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left, was found to have a 45,X/46,X,dic(Yp) chromosome constitution on peripheral blood cultures. Fibroblasts grown from both gonads showed the "normal" testicular tissue to have e 45,X/46,X,dic(Yp), whereas the cells from the streak gonad were all 45,X. The structure of the dic(Yp) chromosome was confirmed using non-isotopic in situ hybridization with Y centromere and Yp specific probes. On hormonal stimulation, testosterone levels rose by 50%. The "normal" testis was left in situ, but close follow up will be required in view of the malignant potential.
AuthorsI D Sugarman, J A Crolla, P S Malone
JournalClinical genetics (Clin Genet) Vol. 46 Issue 4 Pg. 313-5 (Oct 1994) ISSN: 0009-9163 [Print] Denmark
PMID7834898 (Publication Type: Case Reports, Journal Article)
Topics
  • Cell Differentiation
  • Gonadal Dysgenesis, Mixed (embryology, genetics, pathology)
  • Humans
  • In Situ Hybridization
  • Infant, Newborn
  • Karyotyping
  • Male
  • Mosaicism
  • Mullerian Ducts
  • Testis (abnormalities)
  • Y Chromosome

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