Prenatal diagnosis of familial 46,X,del(X)(q27.1) with an Xq27.1-q28 deletion and an Xp22.33 microduplication in an asymptomatic mother carrier
A 36-year-old, gravida 3, para 1, woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,X,del(X)(q27.1)[18]/45,X[2]/47,X,del(X) (q27.1),+del(X) (q27.1)[1] ( Fig. 1 )….