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Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo

Crusi, A.; Engel, E.

Annales de Genetique 29(4): 253-260

1986

ISSN/ISBN: 0003-3995
PMID: 3495227
Document Number: 272981
Three cases of ring G chromosome diagnosed by amniocentesis are reported. In two instances there was paternal transmission of a ring (one r21 and one r22) without clinical manifestation in the fathers, and the two babies resulting from these pregnancies were normal at birth. In the third case, in which a de novo ring 22 was observed in association with IUGR and oligoamnios, the fetus was aborted. The variable phenotypic effects of ring G chromosomes, as well as several aspects of genetic counseling are discussed.

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