Heredity

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).

Subscribe to Heredity