PRENATALLY DETECTED RARE GENETIC PATHOLOGY OF TWO CHROMOSOMES AND PREGNANCY OUTCOMES

  • Mantilė Vilkė LSMU MA Akušerijos ir ginekologijos klinika
  • Eglė Savukynė LSMU MA Akušerijos ir ginekologijos klinika
  • Virginija Ašmonienė LSMU MA Genetikos ir molekulinės medicinos klinika
  • Eglė Machtejevienė LSMU MA Akušerijos ir ginekologijos klinika
  • Jonas Ulevičius LSMU MA Akušerijos ir ginekologijos klinika
DOI: https://doi.org/10.37499/LAG.1493
Keywords: chromosomal aberrations, Wolf-Hirschhorn, Russell-Silver, Beckwith-Wiedemann, fetal growth restriction, fetal dysplasia

Abstract

This article reviews an exceptionally rare case of prenatally detected co-existence of two fetal chromosomal anomalies: an 11p15 duplication and a 4p16.3 deletion. This combination is associated with Beckwith-Wiedemann or Silver-Russell, and Wolf-Hirschhorn syndrome, all characterized by impaired fetal growth and development. While isolated reports document live births, in this case, fetal demise was confirmed at 37 weeks.

Published
2024-12-19
Issue
Vol 27 No 4 (2024): Lithuanian Obstetrics & Gynecology
Section
Clinical case