Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay
Journal Title: Sultan Qaboos University Medical Journal - Year 2013, Vol 13, Issue 2
Abstract
Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. Tis 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.
Authors and Affiliations
Karen L. Sheath| Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand, Roberto L. Mazzaschi| Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand, Salim Aftimos| Genetic Health Service NZ – Northern Hub, Auckland City Hospital, Auckland, New Zealand, Nerine E. Gregersen| Genetic Health Service NZ – Northern Hub, Auckland City Hospital, Auckland, New Zealand, Alice M. George| Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand, Donald R. Love| Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand& School of Medical Sciences, University of Auckland, Auckland, New Zealand
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