{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T00:10:05Z","timestamp":1700698205714},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T00:00:00Z","timestamp":1371168000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most of the literature suggests that unbalanced chromosomal translocations may lead to poor obstetrical outcomes. We present a case of an unbalanced translocation resulting in trisomy 1q and partial monosomy 20p identified on chorionic villous sampling (<jats:styled-content style=\"fixed-case\">CVS<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Case report with expert\u2010derived clinical management and guidance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After the abnormal <jats:styled-content style=\"fixed-case\">CVS<\/jats:styled-content> result, a subsequent amniocentesis revealed a normal 46,<jats:styled-content style=\"fixed-case\">XX<\/jats:styled-content> fetal karyotype. Detailed second trimester ultrasound of the fetus revealed no gross structural abnormalities. The <jats:styled-content style=\"fixed-case\">CVS<\/jats:styled-content> karyotype results were attributed to confined placental mosaicism (<jats:styled-content style=\"fixed-case\">CPM<\/jats:styled-content>) of the unbalanced translocation. The infant is 18\u00a0months old and has normal phenotype and karyotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We recommend that if <jats:styled-content style=\"fixed-case\">CPM<\/jats:styled-content> with an unbalanced translocation is diagnosed on <jats:styled-content style=\"fixed-case\">CVS<\/jats:styled-content>, parental karyotype and an amniocentesis should be offered in conjunction with genetic counseling. In rare instances, such as this one, an unbalanced translocation may have a favorable outcome. 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