Article
Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.
American journal of medical genetics - 5 Jun 1998
Wolff D J, Schwartz S, Montgomery T, Zackowski J L
Abstract excerpt
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....
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