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ea0070ep375 | Reproductive and Developmental Endocrinology | ECE2020

Correlations between clinical suppositions, type of chromosomal anomaly and age for confirmation of diagnosis. A retrospective study of X monosomy

Vlad Gorduza Eusebiu , Martiniuc Violeta , Gramescu Mihaela , Caba Lavinia , Rusus Cristina , Gug Cristina , Florea Ioana , Christina Ungureanu Maria , Carmen Gorduza Nicoleta , Preda Cristina

We made a retrospective study of X monosomy cases identified in our laboratory in the last 10 years. The aim of study was to establish a correlation between different forms of X monosomy, and age for confirmation of cytogenetic diagnosis. Between 2010 and 2019 we confirmed 81 cases of Turner syndrome in our laboratory. We found different forms of X monosomy and the most frequent was X homogenous X monosomy. We found 24 cases (29.62%) of X homogenous monosomy (median age of dia...