Prenatal diagnosis of a der(X)t(X;15)(p22.2;q11.2) inherited from a maternal translocation X;15

Abstract

A karyotype 46,X,der(X)t(X;15)(p22.2;q11.2) derived from a maternal translocation X;15 was ascertained in a female fetus through an abnormal triple screen test at 16 weeks that gave a 1/56 risk for Down syndrome. The pregnancy was terminated at 19.5 weeks and anatomopathologic studies showed fewer malformations than other fetal trisomies 15. This is the first prenatal identification of an unbalanced t(X;15).