Isodicentric Yp: prenatal diagnosis and outcome in 12 cases
Prenatal Diagnosis2006Vol. 26(4), pp. 324–329
Citations Over TimeTop 10% of 2006 papers
Hélène Bruyèrè, Marsha Speevak, E.J.T. Winsor, Bénédicte de Fréminville, Sandra A. Farrell, Jean McGowan‐Jordan, Barbara McGillivray, David Chitayat, Deborah E. McFadden, V. Adouard, Deborah Terespolsky, Fabienne Prieur, Tapio Pantzar, Monica Hrynchak
Abstract
Our cases show that the prenatal finding of an isodicentric Yp, with or without 45,X mosaicism, is compatible with normal male phenotype in most cases, particularly in the absence of other anomalies. To ensure accuracy in cytogenetic reporting and prenatal counseling, the identification of a structurally abnormal or small Y chromosome, either alone or in the presence of 45,X colonies, should be followed immediately by confirmatory molecular cytogenetic investigations as well as by ultrasound determination of the phenotypic sex of the fetus.
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