Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata

    December 2013 in “ Balkan Journal of Medical Genetics
    Adriana Sireteanu, M Voloşciuc, Mihaela Grămescu … Cristina Rusu
    Studysummary This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
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    1. Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata Balkan Journal of Medical Genetics · 2013