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  • Title: Ring chromosome 21. Observation in a female infant.
    Author: Carlo Stella N, Barberi I, Corrado F, Triolo O.
    Journal: Ann Genet; 1984; 27(4):249-51. PubMed ID: 6335374.
    Abstract:
    A case of a female infant with karyotype 46,XX,r(21)/45,XX,-21 is reported. From comparison of the phenotypic anomalies with the other similar cases the large variability of the 21q- syndrome is evident.
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