Apparently balanced reciprocal translocation in fetuses resulting from a twin pregnancy

Authors

  • Hibo Moreno Massip Centro Provincial Genética Médica de Granma. Bayamo.
  • Niurka Cedeño Aparicio Centro Provincial Genética Médica de Granma. Bayamo.
  • Iliana Vargas Cruz Centro Provincial Genética Médica de Granma. Bayamo.

Keywords:

Genetic Translocation, Chromosomes.

Abstract

Introduction: structural chromosomal variations affect the linear sequence of genes resulting in loss, gain or rearrangement of hereditary material to other regions of the genome.
Case presentation: This report refers to a 38-year-old pregnant woman who presents with a non-consanguineal monocygotic monocystic twin-monocystic twin pregnancy. The cytogenetic prenatal study by advanced maternal age (AEM) was performed at 16 weeks gestation.

 Discussion: the result obtained for both fetuses was a seemingly balanced reciprocal translocation: 46, XY, t (4; 5) (q21; p15). The peripheral blood chromosome study was performed on both parents, identifying that the structural chromosomal rearrangement found in the prenatal study is of paternal origin.

Conclusions: the reciprocal translocations represent a challenge for the prenatal cytogenetic study since knowing their inherited or de novo nature, balanced nature and characteristics of the breakpoints is of vital importance for the realization of an accurate genetic advice to the pregnant woman and the family.

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References

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Published

2020-03-19

How to Cite

1.
Moreno Massip H, Cedeño Aparicio N, Vargas Cruz I. Apparently balanced reciprocal translocation in fetuses resulting from a twin pregnancy. RM [Internet]. 2020 Mar. 19 [cited 2025 Jun. 2];24. Available from: https://revmultimed.sld.cu/index.php/mtm/article/view/1868

Issue

VOL.24 (2020): Suplemento 1

Section

CASOS CLÍNICOS

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