[
    {
        "id": "osp-11207",
        "type": "article-journal",
        "title": "Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay",
        "author": [
            {
                "family": "Sheath",
                "given": "Karen L."
            },
            {
                "family": "Mazzaschi",
                "given": "Roberto L."
            },
            {
                "family": "Gregersen",
                "given": "Salim"
            },
            {
                "family": "E.",
                "given": "Nerine"
            },
            {
                "family": "George",
                "given": "Alice M."
            },
            {
                "family": "Love",
                "given": "Donald R."
            }
        ],
        "URL": "https://omanscience.com/ar/articles/clinical-outcomes-and-counselling-issues-regarding-partial-trisomy-of-terminal-xp-in-a-child-with-developmental-delay",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2025
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "13",
        "issue": "2",
        "page": "311-317",
        "DOI": "10.18295/2075-0528.1473",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "abstract": "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."
    }
]