[Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo].
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.
D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D007621:Karyotyping; D011296:Prenatal Diagnosis; D012303:Ring Chromosomes
Diagnostic prénatal de trois cas de chromosome G en anneau: un 21 et deux 22, dont un de novo.