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- W2029180467 abstract "We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivation in both the patient and her mother. In the mother, the derivative X (der(X)) was active, whereas the normal X was late replicating. In contrast, in the patient the der(X) was late replicating, and there was no spreading of X-inactivation onto the autosomal segment, thus giving an explanation for the full clinical picture of partial trisomy 16p. © 1996 Wiley-Liss, Inc." @default.
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- W2029180467 date "1996-01-11" @default.
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- W2029180467 title "X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation" @default.
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- W2029180467 doi "https://doi.org/10.1002/(sici)1096-8628(19960111)61:2<117::aid-ajmg2>3.0.co;2-u" @default.
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