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  • Title: Deletion of the long arm of chromosome 6: two new patients and literature review.
    Author: Evers LJ, Schrander-Stumpel CT, Engelen JJ, Hoorntje TM, Pulles-Heintzberger CF, Schrander JJ, Albrechts JC, Peters J, Fryns JP.
    Journal: Clin Genet; 1996 Sep; 50(3):138-44. PubMed ID: 8946112.
    Abstract:
    Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
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