الملخص
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.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1473
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 13(2), 311-317
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
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.
شيكاغو (المؤلف–التاريخ)
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.
هارفارد
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.
فانكوفر
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.