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- W2011697466 abstract "X inactivation is the process by which mammalian females achieve dosage compensation by transcriptionally silencing one X chromosome. In chromosomally normal females, this process is random. However, most females with one abnormal X chromosome demonstrate complete skewing of X inactivation, presumably as the result of cell selection. We present a mentally retarded girl with a 46,X,t(X;9)(q28;q12) karyotype. Analysis of this patient's lymphocytes, using late replication banding and methylation assays for the androgen receptor (AR) and fragile X mental retardation (FMR1) genes, did not show the predicted nonrandom X inactivation pattern. Thus, this patient is functionally disomic for Xq28-qter in a proportion of her cells, most likely resulting in her abnormal phenotype. This case demonstrates the utility of correlating X inactivation patterns with phenotype in females with one structurally abnormal X chromosome, and suggests that both cytogenetic and molecular X inactivation studies should be included in the routine study of these individuals." @default.
- W2011697466 created "2016-06-24" @default.
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- W2011697466 date "1998-06-05" @default.
- W2011697466 modified "2023-09-24" @default.
- W2011697466 title "Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype" @default.
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- W2011697466 doi "https://doi.org/10.1002/(sici)1096-8628(19980605)77:5<401::aid-ajmg9>3.0.co;2-p" @default.
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