Phenotype and X inactivation in 45,X/46,X,r(X) cases
β Scribed by Leppig, Kathleen A. ;Sybert, Virginia P. ;Ross, Judith L. ;Cunniff, Christopher ;Trejo, Tina ;Raskind, Wendy H. ;Disteche, Christine M.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 163 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
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We report on a mother and daughter both with a 45,X/46,X,r(X)(p22. 3q28) karyotype and mental retardation. Fluorescence in situ hybridization (FISH) and microsatellite analyses for 14 loci/region at Xp22.3 and seven loci/region at Xq28 indicated that the ring X chromosome was missing a roughly 12-Mb
We report on five patients with 45,X/46,XY mosaicism. In these subjects, as well as in 58 individuals from the literature with a similar chromosome constitution, we did not find a preponderance of 46,XY cells among patients showing ambiguous to abnormai male externa1 genitalia when compared to those