Recurrent miscarriage in a balanced chromosomal translocation carrier

• Main Authors: José Ricardo Magliocco Ceroni, Marta Wey Vieira, Júlio Boschini Filho, Débora Aparecida Rodrigueiro
• Format: Article
• Language: Portuguese
• Published: Pontifícia Universidade Católica de São Paulo 2013-12-01
• Series: Revista da Faculdade de Ciências Médicas de Sorocaba
• Subjects: aborto habitual; aborto espontâneo; translocação genética; aconselhamento genético
• Online Access: http://revistas.pucsp.br/index.php/RFCMS/article/view/17654

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.