We have received the final reports from our Gentetics Lab on the tests performed in the UK. In short, it has been explained to us that females have two X Chromosomes, one active and one inactive. The majority of female carriers of an Xp duplication would be expected to have the duplication on the inactive X Chromosome thereby being phenotypically normal. Where the duplication has affected the active X Chromosome, females exhibit borderline to severe mental retardation, speech delay, EEG abnormalities, minor dysmorphic features and early puberty. In order to confirm if this duplication is the cause of Jess's developmental delay etc., a further test is required to determine her inactivation status. This test will need to be performed in the UK lab again. Our geneticist has recently resigned and Jess's file has been handed over to a new doctor. We plan to make an appointment with her in the New Year to discuss the full details on the next test required.
RSS Feed
