Article
Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis.
Annales de genetique - 1 Jan 2000
Bouayed Abdelmoula N, Portnoï M F, Amouri A, Arladan A, Chakroun M, Saad A, Hchicha M, Turki H, Rebai T
Abstract excerpt
Rearranged X chromosome in Turner syndrome (TS) are generally well tolerated but in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher. These abnormal phenotypes can be ascribed to failed or partial X inactivation. Here, we report a 10-year-old female who was referred for a cytogenetic analysis because she...
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