الملخص
Silver-Russell Syndrome (SRS) is a disorder that is primarily characterised by intrauterine growth restriction which may occur asymmetrically or in whole, leading to a fetus being small relative to its gestational age. We present a female infant (proband) born in 2018 at a tertiary hospital in Muscat, Oman, with severe congenital anomalies. The proband carried a >25Mb duplication of the chromosomal 11p15-11pter locus of chromosome 13; creating a derivative chromosome 13 (der[13]) and was reported as 46,XX,der(13)add(11p15-11pter). A methylation-sensitive assay confirmed a diagnosis of SRS. Although the prognosis for SRS patients is generally good, the proband presented with a clinically severe phenotype culminating in death at the age of nine months. To the best of the authors’ knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus in a patient with SRS.
بيانات النشر
- المعرّف الرقمي
- 10.18295/squmj.4.2022.033
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 23(2), 264-268
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Hamza, N., Al-Araimi, M., Al Salmani, K., & Al Obeidani, S. (2025). First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome. Sultan Qaboos University Medical Journal, 23(2), 264-268. https://doi.org/10.18295/squmj.4.2022.033
MLA 9
Hamza, Nishath, et al. "First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome." Sultan Qaboos University Medical Journal, vol. 23, no. 2, 2025, pp. 264-268. https://doi.org/10.18295/squmj.4.2022.033.
شيكاغو (المؤلف–التاريخ)
Hamza, Nishath, Musallam Al-Araimi, Kamla Al Salmani, and Salwa Al Obeidani. 2025. "First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome." Sultan Qaboos University Medical Journal 23 (2): 264-268. https://doi.org/10.18295/squmj.4.2022.033.
هارفارد
Hamza, N., Al-Araimi, M., Al Salmani, K. and Al Obeidani, S. (2025) 'First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome', Sultan Qaboos University Medical Journal, 23(2), pp. 264-268. doi:10.18295/squmj.4.2022.033.
فانكوفر
Hamza N, Al-Araimi M, Al Salmani K, Al Obeidani S. First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome. Sultan Qaboos University Medical Journal. 2025;23(2):264-268. doi:10.18295/squmj.4.2022.033
IEEE
N. Hamza, M. Al-Araimi, K. Al Salmani, and S. Al Obeidani, "First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome," Sultan Qaboos University Medical Journal, vol. 23, no. 2, pp. 264-268, 2025, doi: 10.18295/squmj.4.2022.033.