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Article

Trisomy 21 mosaicism in two subjects from two generations.

Annales de genetique - 1 Jan 1992

Casati A, Giorgi R, Lanza A, Raimondi E, Vagnarelli P, Mondello C, Ghetti P, Piazzi G, Nuzzo F

Abstract excerpt

In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xeroderma pigmentosum, a low proportion of cells with a 47,XY,+21 karyotype was found in lymphocyte cultures of a patient not showing any Down syndrome symptom. The presence of trisomy 21 mosaicism was demonstrated also in peripheral blood of the healthy father and confirmed by "chromosome painting" that allowed a rapid...

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PMID: 1296525

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