Published Date: July 18, 2013

Full Text Article

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Authors: Karen L Sheath, Roberto L Mazzaschi, Salim Aftimos, Nerine E Gregersen, Alice M George, Donald R Love

Sultan Qaboos Univ Med J. 2013 May;13(2):311-7. doi: 10.12816/0003240. Epub 2013 May 9.


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.

PMID: 23862040DOI: 10.12816/0003240PMC: PMC3706124