Reciprocal translocation

Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China

H. - T. Fan, Zhang, M., Zhan, P., Yang, X., Tian, W. - J., Li, R. - W., Fan, H. - T., Zhang, M., Zhan, P., Yang, X., Tian, W. - J., Li, R. - W., Fan, H. - T., Zhang, M., Zhan, P., Yang, X., Tian, W. - J., and Li, R. - W., Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China, vol. 15, p. -, 2016.

Recurrent spontaneous abortions (RSAs) occur in approximately 15 to 20% of all clinically recognizable pregnancies. Structural chromosome abnormalities result in increased risk of pregnancy loss. Parental chromosomal abnormalities are an important genetic cause of RSAs. Some cytogenetic investigations have been performed in various countries and regions to determine the pattern of chromosomal abnormalities in parents with RSAs. The aim of this study was to report the prevalence and type of structural chromosomal abnormalities in couples in cases of RSAs in Jilin Province, China.

Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter

X. Y. Liu, Jiang, Y. T., Wang, R. X., Luo, L. L., Liu, Y. H., and Liu, R. Z., Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter, vol. 14, pp. 10267-10272, 2015.

We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman’s husband had a normal male karyotype and was phenotypically normal. During this first pregnancy, an amniocentesis, which was done at 19 weeks, revealed that the fetal karyotype was 46,XX, t(17; 22) (q21; q11).

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