Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
2019
Background
Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well‐documented description of a complete tetrasomy 21 in the literature.
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