Recurrent miscarriage in a balanced chromosomal translocation carrier

Authors

  • José Ricardo Magliocco Ceroni FCMS/PUC-SP
  • Marta Wey Vieira FCMS/PUC-SP
  • Júlio Boschini Filho FCMS/PUC-SP
  • Débora Aparecida Rodrigueiro FCMS/PUC-SP

Keywords:

habitual abortion, spontaneous abortion, genetic translocation, genetic counseling.

Abstract

ABSTRACT
This case report describes a 30-year-old female patient, carrier of a balanced chromosomal translocation. The patient has a past of three consecutives abortions, the first two losses during the tenth week of pregnancy and the third during the eighth week. This situation motivated the couple to seek the obstetrics & gynecologic professional at the Basic Health Care Unit, who referred them to the Genetic ambulatory care. Karyotype reveals the female patient carries a balanced chromosomal translocation, being 46,XX, t(1;16)(p36;q22), while her partner is normal 46,XY. Such chromosomal abnormality is largely linked with recurrent miscarriage in early pregnancy and the risk of birth of an abnormal child, therefore it is recommended genetic counseling and assisted reproduction if another pregnancy is desired.

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Author Biographies

José Ricardo Magliocco Ceroni, FCMS/PUC-SP

Acadêmico do curso de Medicina FCMS/PUC-SP

Marta Wey Vieira, FCMS/PUC-SP

Professora do Depto. de Medicina FCMS/PUC-SP

Júlio Boschini Filho, FCMS/PUC-SP

Professor do Depto. de Morfologia e Patologia FCMS/PUC-SP

Débora Aparecida Rodrigueiro, FCMS/PUC-SP

Professora do Depto. de Morfologia e Patologia FCMS/PUC-SP

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Published

2013-12-16

How to Cite

1.
Ceroni JRM, Vieira MW, Boschini Filho J, Rodrigueiro DA. Recurrent miscarriage in a balanced chromosomal translocation carrier. Rev. Fac. Ciênc. Méd. Sorocaba [Internet]. 2013Dec.16 [cited 2024Jul.17];15(4):133-5. Available from: https://revistas.pucsp.br/index.php/RFCMS/article/view/17654

Issue

Section

Case Report