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 details
- DOI
- 10.18295/2075-0528.1473
- Journal
- Sultan Qaboos University Medical Journal, 13(2), 311-317
- Publisher
- Sultan Qaboos University
- Open access
- Gold open access
- License
- CC BY-ND 4.0
Cite this article
APA 7
Sheath, K. L., Mazzaschi, R. L., Gregersen, S., E., N., George, A. M., & Love, D. R. (2025). 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. https://doi.org/10.18295/2075-0528.1473
MLA 9
Sheath, Karen L., et al. "Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay." Sultan Qaboos University Medical Journal, vol. 13, no. 2, 2025, pp. 311-317. https://doi.org/10.18295/2075-0528.1473.
Chicago (author–date)
Sheath, Karen L., Roberto L. Mazzaschi, Salim Gregersen, Nerine E., Alice M. George, and Donald R. Love. 2025. "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. https://doi.org/10.18295/2075-0528.1473.
Harvard
Sheath, K. L., Mazzaschi, R. L., Gregersen, S., E., N., George, A. M. and Love, D. R. (2025) 'Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay', Sultan Qaboos University Medical Journal, 13(2), pp. 311-317. doi:10.18295/2075-0528.1473.
Vancouver
Sheath KL, Mazzaschi RL, Gregersen S, E. N, George AM, Love DR. Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay. Sultan Qaboos University Medical Journal. 2025;13(2):311-317. doi:10.18295/2075-0528.1473
IEEE
K. L. Sheath, R. L. Mazzaschi, S. Gregersen, N. E., A. M. George, and D. R. Love, "Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay," Sultan Qaboos University Medical Journal, vol. 13, no. 2, pp. 311-317, 2025, doi: 10.18295/2075-0528.1473.