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  • Title: Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
    Author: Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI.
    Journal: Am J Med Genet A; 2008 Oct 15; 146A(20):2663-7. PubMed ID: 18798309.
    Abstract:
    Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature.
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