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대한생식의학회지 제24권 제3호 2010년
비정상 산과력을 가진 부부에서의 균형전좌형 염색체 보인자의 빈도 및 그 보인자들에서의 산전 세포유전학적 진단
성균관 대학교 의과대학, 삼성제일병원, 유전학 연구실;성균관 대학교 의과대학, 삼성제일병원, 산부인과;성균관 대학교 의과대학, 삼성제일병원, 산부인과;성균관 대학교 의과대학, 삼성제일병원, 산부인과;성균관 대학교 의과대학, 삼성제일병원, 유전학 연구실;성균관 대학교 의과대학, 삼성제일병원, 유전학 연구실;성균관 대학교 의과대학, 삼성제일병원, 유전학 연구실;
박소연;강인수;류현미;전종영;이문희;김진미;최수경;,
Prevalence of Balanced Chromosomal Translocations in Couples with Abnormal Reproductive Outcomes and Prenatal Cytogenetic Diagnosis in the Carriers
Part, So-Yeon;Kang, Inn-Soo;Ryu, Hyun-Mee;Jun, Jong-Young;Lee, Moon-Hee;Kim, Jin-Mi;Choi, Soo-Kyung;
Genetic Research Laboratory, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;Department of Obstetrics & Gynecology, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;Department of Obstetrics & Gynecology, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;Department of Obstetrics & Gynecology, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;Genetic Research Laboratory, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;Genetic Research Laboratory, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;Genetic Research Laboratory, Samsung Cheil Hospital & Women's Healthcare Center, College of Medicine, Sung Kyun Kwan University;
Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.
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