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

Authors

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

Abstract

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.

Publication Date

9-5-2013

First Page

311

Last Page

317

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Recommended Citation

Sheath, Karen L.; Mazzaschi, Roberto L.; Aftimos, Salim; Gregersen, Nerine E.; George, Alice M.; and Love, Donald R. (2013) "Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay," Sultan Qaboos University Medical Journal: Vol. 13: 311-317.
DOI: https://doi.org/10.18295/2075-0528.1473