Article
First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome.
Sultan Qaboos University medical journal - 1 May 2023
Hamza Nishath, Al-Araimi Musallam, Al Salmani Kamla, Al Obeidani Salwa
Abstract excerpt
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...
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