Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature

Taiwan J Obstet Gynecol. 2021 May;60(3):554-558. doi: 10.1016/j.tjog.2021.03.031.

Abstract

Objective: To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype-phenotype correlation.

Case report: A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5 mm at 12+1 weeks of gestation and nuchal fold (NF) was 6.1 mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). CMA detected a 16.293 Mb duplication at 13q21.32q31.1 and 31.303 Mb deletion at 13q31.1q34.

Conclusion: R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.

Keywords: Chromosomal microarray analysis; Genetic counseling; Nuchal translucency; Prenatal diagnosis; Ring chromosome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abortion, Eugenic
  • Amniocentesis
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / embryology
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Cytogenetic Analysis
  • Female
  • Humans
  • Karyotype
  • Karyotyping
  • Microarray Analysis
  • Mosaicism / embryology*
  • Nuchal Translucency Measurement
  • Pregnancy
  • Ring Chromosomes
  • Young Adult

Supplementary concepts

  • Chromosome 13 ring