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Abstract

Silver-Russell Syndrome (SRS) is a disorder that is primarily characterized 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), 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 Silver-Russell Syndrome (SRS). Although the prognosis for SRS patients is generally good, our proband presented with a clinically severe phenotype culminating in death at nine months. To the best of our knowledge, this is the first report of a derivative chromosome 13 with a duplicated 11p15 locus being reported in a patient with SRS.


Keywords: Silver-Russell syndrome, growth retardation, imprinting, derivative chromosome.

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How to Cite
Hamza, N., Al-Araimi, M., Al Salmani, K., & Al Obeidani, S. (2022). First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell syndrome. Sultan Qaboos University Medical Journal, 1(1). https://doi.org/10.18295/squmj.4.2022.033