An infant with a mosaic 45,X/46,X,psu dic(Y) (pter {r_arrow} q11.2::q11.2 {r_arrow}pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads
Journal Article
·
· American Journal of Medical Genetics
DOI:https://doi.org/10.1002/(SICI)1096-8628(19961230)66:4<441::AID-AJMG11>3.0.CO;2-U·
OSTI ID:478537
- Corning Nichols Inst., San Juan Capistrano, CA (United States)
- Medical Center of Central Georgia, Macon, GA (United States)
An infant with mixed gonadal dysgenesis was found to have a 45,X/46,X,psu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromosome became apparent in fluorescence in situ hybridization studies. The presence of Y centromeric sequences was demonstrated in the paraffin-embedded testis and streak ovary sections. The ratio of Y-positive cells was higher in the testis than in the streak ovary. 7 refs., 2 figs.
- OSTI ID:
- 478537
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 66; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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