Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14).

Abstract

In this report we describe the mild phenotypic manifestations and normal gonadal function in a 50-year-old mother and her 17-year-old daughter with 4p trisomy resulting from an unbalanced t(X;4)(p22.1;p14) mat. Late replication of the der(X) was demonstrated by BrdU incorporation with spreading of the late replication to the 4p portion as an explanation of… (More)

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@article{Petit1994MildPA, title={Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14).}, author={Pierre Petit and Carl Hilliker and Fred van Leuven and J. P. Fryns}, journal={Clinical genetics}, year={1994}, volume={46 4}, pages={304-8} }