[
    {
        "id": "osp-10189",
        "type": "article-journal",
        "title": "First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome",
        "author": [
            {
                "family": "Hamza",
                "given": "Nishath"
            },
            {
                "family": "Al-Araimi",
                "given": "Musallam"
            },
            {
                "family": "Al Salmani",
                "given": "Kamla"
            },
            {
                "family": "Al Obeidani",
                "given": "Salwa"
            }
        ],
        "URL": "https://omanscience.com/ar/articles/first-report-of-a-derivative-chromosome-13-with-a-duplicated-11p15-locus-associated-with-silver-russell-syndrome",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2025
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "23",
        "issue": "2",
        "page": "264-268",
        "DOI": "10.18295/squmj.4.2022.033",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "abstract": "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."
    }
]