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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 counselling. 


Trisomy X chromosome monosomy Xp22 pter X chromosome inactivation Receptors gastrinreleasing peptide KAL-1 protein Case report New Zealand.

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Sheath, K. L., Mazzaschi, R. L., Aftimos, S., Gregersen, N. E., George, A. M., & Love, D. R. (2013). Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay. Sultan Qaboos University Medical Journal, 13(2), 311–317. Retrieved from

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