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

摘要: A karyotype 46,X,der(X)t(X;15)(p22.2;q11.2) derived from a maternal translocation X;15 was ascertained in female fetus through an abnormal triple screen test at 16 weeks that gave 1/56 risk for Down syndrome. The pregnancy terminated 19·5 and anatomopathologic studies showed fewer malformations than other fetal trisomies 15. This is the first prenatal identification of unbalanced t(X;15). © 1998 John Wiley & Sons, Ltd.