Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)

Marija Jurčenko (Coresponding Author), Madara Auzenbaha, Ieva Mičule, Ieva Grīnfelde, Aigars Dzalbs, Ieva Mālniece

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND Parental chromosomal structural abnormalities can lead to diverse chromosomal imbalances at meiotic segregation during gametogenesis and subsequent early pregnancy loss or birth of a child with a chromosomal abnormality. The incidence of unbalanced translocations is 1 per 1000 newborns versus 3 per 1000 newborns for balanced rearrangements. Here, we present the case of a mother with an unbalanced chromosomal translocation and her offspring. CASE REPORT Our patient had a 1p36.31 duplication of 0.22 Mb and 6qter deletion of 1.2 Mb. She had 5 pregnancies with different outcomes. Her first child died 24 h after birth due to a congenital heart defect. Her second pregnancy resulted in the birth of a girl who was postnatally diagnosed with 1p36 deletion syndrome. The third and fourth pregnancies ended spontaneously in the first trimester. For her last pregnancy, the patient underwent a diagnostic amniocentesis at the 16th week of gestation. A large 5.4-Mb pathogenic duplication of 1p36.33 was detected in the fetus and the woman decided to terminate the pregnancy. CONCLUSIONS In this case report, we detail the different pregnancy outcomes induced by the mother's unbalanced chromosomal translocation and review the prenatal diagnostic genetic testing. Our report clearly demonstrates the complementary nature of chromosomal microarrays and conventional karyotyping.

Original languageEnglish
Article numbere935370
Pages (from-to)e935370-1 - e935370-6
Number of pages6
JournalAmerican Journal of Case Reports
Volume23
Issue number1
DOIs
Publication statusPublished - 22 Feb 2022

Keywords*

  • Abnormal Karyotype
  • Microarray Analysis
  • Translocation, Genetic

Field of Science*

  • 3.1 Basic medicine
  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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