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Prenatal diagnosis of a der(X)t(X;15)(p22.2;q11.2) inherited from a maternal translocation X;15
Author(s) -
GarciaHeras Jaime,
Ulm Janet E.,
Shaver David E.,
Hall Eric,
Saikevych Irene A.
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199807)18:7<747::aid-pd332>3.0.co;2-0
Subject(s) - chromosomal translocation , prenatal diagnosis , karyotype , fetus , pregnancy , medicine , down syndrome , gynecology , obstetrics , gestation , x chromosome , genetics , biology , chromosome , gene
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). © 1998 John Wiley & Sons, Ltd.