Dino Cancemi, Maria Urciuoli, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Carmine Spampanato, Marialuisa Ventruto, Valerio Ventruto, Carmine Sica
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A case of polimalformed fetus with a microdeletion of CTNNA3 gene.
We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene.