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  • Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
    Vergult, Sarah ...
    The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of ... clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are ~2.5 Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype-phenotype correlation associated with this deletion and compare our patients with previously reported cases.
    Vir: EJHG. European journal of human genetics. - ISSN 1018-4813 (Vol. 19, [no. 10], 2011, str. 1032-1037)
    Vrsta gradiva - članek, sestavni del ; neleposlovje za odrasle
    Leto - 2011
    Jezik - angleški
    COBISS.SI-ID - 4391999
    DOI

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