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- W2020199076 abstract "A phenotypically normal mother carries a balanced X-21 translocation. Autoradiography of the mother's cells reveals that in all cells the normal X is late replicating. Her only pregnancy produced like-sex twins, one of whom is phenotypically and karyotypically normal. The co-twin is mentally retarded and has multiple anomalies. Her karyotype is 46,XX,der(21),t(X;21)(q11;p11?)mat. In the majority of informative cells from the daughter, one normal X and the entire Xt replicate late. This maintains X dosage compensation, but results in effective monosomy 21. The phenotype of the infant is similar to others with 21q−. A phenotypically normal mother carries a balanced X-21 translocation. Autoradiography of the mother's cells reveals that in all cells the normal X is late replicating. Her only pregnancy produced like-sex twins, one of whom is phenotypically and karyotypically normal. The co-twin is mentally retarded and has multiple anomalies. Her karyotype is 46,XX,der(21),t(X;21)(q11;p11?)mat. In the majority of informative cells from the daughter, one normal X and the entire Xt replicate late. This maintains X dosage compensation, but results in effective monosomy 21. The phenotype of the infant is similar to others with 21q−." @default.
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- W2020199076 title "X-autosome translocation in normal mother and effectively 21-monosomic daughter" @default.
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- W2020199076 doi "https://doi.org/10.1016/s0022-3476(74)80674-8" @default.
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