Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

Abstract

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

“…The trisomic segment, however, often could not be defined owing to the lack of specific cytogenetic techniques 56 8 13-15 …”