Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27).


An Xq-duplication was found in a female child with multiple malformations. The family study revealed that her mother, who has a nearly normal phenotype, carries the same duplication. The karyotype of the grandmother shows the existence of a mosaicism: 46,X,del(X) (q23)/46,X,dup(X)(q27----q23). This mosaicism can be related to a translocation t(X;X)(q23;q27) during the first cell division of the zygote.


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@article{MorichonDelvallez1988InheritedXD, title={Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27).}, author={N Morichon-Delvallez and J Couturier and V Bourdrel}, journal={Annales de génétique}, year={1988}, volume={31 2}, pages={117-9} }