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  • Title: Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.
    Author: Wanderley HY, Schrander-Stumpel CT, Visser MO, Van Maanen-Op Het Roodt EA, Loneus WH, Engelen JJ.
    Journal: Genet Couns; 2005; 16(3):277-82. PubMed ID: 16259325.
    Abstract:
    We report on a 16-month-old boy presenting with psychomotor retardation, craniofacial anomalies and severe vision deficit. Analysis of GTG-banded chromosomes showed that the patient had extra chromosomal material in the long arm of one chromosome 20. This chromosome aberration was further characterized with FISH using a chromosome 20 specific paint and band-specific probes. A partial trisomy 20q was shown to be present, the karyotype being 46, XY, dup (20) (q11.2q12). The cytogenetic and clinical findings are compared with cases previously reported in the literature.
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