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.
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Authors | I D Sugarman, J A Crolla, P S Malone |
Journal | Clinical genetics
(Clin Genet)
Vol. 46
Issue 4
Pg. 313-5
(Oct 1994)
ISSN: 0009-9163 [Print] Denmark |
PMID | 7834898
(Publication Type: Case Reports, Journal Article)
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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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