Clinical outcomes and counselling issues regarding partial trisomy of terminal Xp in a child with developmental delay

Abstract EN

Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges.

This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre.

We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic counseling.