Prenatal Cytogenetic Diagnosis in Balanced Chromosome Translocation Carriers.

Lee, Chung Il; Lee, Soon Gone; Kim, Yong Jin; Oh, Shin Jeong; Kim, Hyun Seung; Choi, Kyung Joon; Lee, Kwon Hae

Original Article

Korean Journal of Obstetrics & Gynecology 1997;40(9):1846-1857.
Published online January 1, 2001.

Prenatal Cytogenetic Diagnosis in Balanced Chromosome Translocation Carriers.

Chung Il Lee, Soon Gone Lee, Yong Jin Kim, Shin Jeong Oh, Hyun Seung Kim, Kyung Joon Choi, Kwon Hae Lee

Department of Obstetrics and Gynecology, College of Medicine, Soonchunhyang University, Seoul, Korea.

Abstract

Retrospective analysis of chromosomal abnormalities was performed on 75 couples who had recurrent spontaneous abortion. Karyotyping of their peripheral blood lymphocytes was made on 75 patients and 75 their husbands. The overall incidence of chromosomal aberrations was 22.7 %(17 in 75 couple). Number of chromosomal abnormalities in wives was twelve. Another chromosomal abnormalities were found in five husbands. All of them were balanced form and their phenotypes were normal. The incidence of translocations among total chromosomal abnormalities was 64.7 % (11/17). The incidence of reciprocal translocation(72.7 %) was higher than that of Robertsonian translocation (27.3 %). There were six other abnormalities including one case of inversion and five cases of polymorphisms. amniocentesis or chorionic villi sampling was performed during subsequent pregnancy to couples who had balanced chromosomal abnormalities. The karyotypes were classified as balanced translocation in seven cases, inversion in one case and normal karyotype in one case. This study suggests that prenatal diagnosis should be emphasized in couples in which one person is the carrier of a balanced chromosomal abnormality.

Key Words: Balanced chromosome translocation, Cytogenetics