Berry syndrome: the importance of genetic evaluation before surgical intervention

Cardiol Young. 2016 Jan;26(1):188-90. doi: 10.1017/S1047951115000256. Epub 2015 Apr 1.

Abstract

Berry syndrome is a rare CHD. Approximately 29 cases have been described in the literature. Surgical correction has been successfully performed as well. We report the case of a newborn diagnosed with Berry syndrome who was subsequently diagnosed with trisomy 13. Cytogenetic analysis should be performed before surgical repair for optimal management.

Keywords: Aneuploidy; Berry syndrome; cytogenetic analysis.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 13 / genetics
  • Fatal Outcome
  • Female
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / surgery
  • Humans
  • Infant, Newborn
  • Preoperative Care
  • Syndrome
  • Trisomy / genetics

Supplementary concepts

  • Chromosome 13p duplication