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  • Title: Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation.
    Author: Sillén A, Wadelius C, Annerén G.
    Journal: Am J Med Genet; 1998 Nov 02; 80(2):163-8. PubMed ID: 9805135.
    Abstract:
    A 20-year-old man with multiple anomalies caused by a de novo duplication of the long arm of chromosome 1 is presented. The patient suffers from severe mental retardation, epilepsy, bronchial stenosis, and minor anomalies (e.g., hirsutism, midface dysplasia, and beaked nose). A G-banding analysis of the patient's chromosomes showed additional segments in chromosome 1. Fluorescent in situ hybridisation analysis with a chromosome 1 painting probe showed that the extra material originated from chromosome 1. Further analysis with cosmid probes demonstrated that the region involving chromosome bands 1q31 to q41 is present in a tandem duplication.
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