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  • Title: 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
    Author: Maaswinkel-Mooij PD, de Jong P, Beverstock GC.
    Journal: Clin Genet; 1993 Feb; 43(2):76-8. PubMed ID: 8448905.
    Abstract:
    A mosaic karyotype: 46,XY,del(18)(q21.3q22.2)/47,XY,del(18) (q21.3q22.2)+ marker, was found in a mentally retarded male with a mild form of the 18q- syndrome and aplasia of the right thumb. By fluorescent in situ hybridisation, the marker chromosome could be identified as a ring chromosome no. 18.
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