Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype
β Scribed by Shalini C. Reshmi; Jennifer L. Miller; Dianne Deplewski; Clare Close; Leslie J. Henderson; Elizabeth Littlejohn; Stuart Schwartz; Darrel J. Waggoner
- Book ID
- 116433334
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 232 KB
- Volume
- 54
- Category
- Article
- ISSN
- 1769-7212
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## Abstract We report on a 13βyearβold female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c
An infant with mixed gonadal dysgenesis was found to have a 45,X/46Xpsu 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 hybridi