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  • Title: Reproduction in a female patient with Down's syndrome. Case report of a 46, XY child showing slight phenotypical anomalies, born to a 47, XX, + 21 mother.
    Author: Scharrer S, Stengel-Rutkowski S, Rodewald-Rudescu A, Erdlen E, Zang KD.
    Journal: Humangenetik; 1975; 26(3):207-14. PubMed ID: 124304.
    Abstract:
    A non-mongoloid boy born to a mongoloid mother is described. He showed aplasia of the left 5th finger and some clinical and dermatoglyphic features frequently found in Down's syndrome. Chromosome analysis revealed few hyperdiploid but no G-trisomic cells. An undetected G-trisomy mosaic, or a mechanism of extrachromosomal inheritance, and an embryonic development in a pathological milieu are discussed.
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