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  • Title: Ring chromosome 16: a new case.
    Author: Vianello MG, Cottafava F, Bartoli D, Franzone G, Casazzava R, Gastaldi R.
    Journal: Ann Genet; 1990; 33(1):36-9. PubMed ID: 2195979.
    Abstract:
    A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".
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