Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report

Kirman U. N., Aliyev F., SOĞUKPINAR M., ŞİMŞEK KİPER P. Ö., AYKAN H. H., ÇELİK H. T.

CYTOGENETIC AND GENOME RESEARCH, 2025 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1159/000543591
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Introduction: Congenital cardiac defects are defined incases with the deletion of the short arm of chromosome 5and the duplication of the long arm of chromosome 4. Septaldefects and patent ductus arteriosus are among the most common defects reported in the literature. Case Presentation: We reported on a case with a complex con-genital cardiac defect, dysmorphic facial features, cat-likecry, hypotonia, hyporeflexia, weak swallowing and sucking,limb anomalies, and bilateral undescended testicles. Achromosomal microarray (CMA) revealed a duplication ofchromosome 4q26q35.2 and a deletion of chromosome5p15.33p14.3, originating from the balanced maternaltranslocation 46,XX,t(4;5)(q27;pter). Our patient showedclinical characteristics compatible with both deletion of 5pand duplication of 4q.Conclusion:We reported a case with arare chromosomal rearrangement. Similarities and differ-ences between the cases in the literature are discussed. CMAis important to detect multiple copy number variations andgenes may be involved. Studies are needed to investigatethe genetic and/or epigenetic causes resulting in the clinicalfindings seen in the combination of deletion of chromosome5p and duplication of chromosome 4q