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Case Reports
. 1977 Aug;14(4):286-7.
doi: 10.1136/jmg.14.4.286.

Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism

Case Reports

Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism

A Osuna et al. J Med Genet. 1977 Aug.

Abstract

This paper describes a family with 3 affected sibs with regular trisomy 21 Down syndrome. The condition seems to be transmitted from a phenotypically normal mother in whom G-trisomy mosaicism was identified. Giemsa banding depicted trisomy 21 mosaicism in cells from the mother. Chromosomes from the children showed a trisomy 21 in all the cells analysed.

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References

    1. Lancet. 1971 Oct 30;2(7731):971-2 - PubMed
    1. J Med Genet. 1974 Dec;11(4):378-9 - PubMed
    1. Acta Paediatr Scand. 1969 Nov;58(6):609-14 - PubMed

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