Mental retardation in association with a balanced X‐autosome translocation and random inactivation of the X chromosomes

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Abstract
A woman whose karyotype shows an apparently balanced reciprocal translocation, 46, X, t(Xq+; 10q-) is described. She is profoundly mentally retarded and shows minor physical abnormalities with normal sexual development. There is a random pattern of late replication of the normal X and the X involved in the translocation, whereas in most balanced X-autosome translocations there is preferential inactivation of the normal X.