Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation

Abstract

We report a female fetus with partial 7q monosomy and partial 8p trisomy, as the unbalanced product of a familial balanced reciprocal translocation; rcp t(7;8)(134:p12)mat. Among pregnancies from translocation carriers in this family, there has been a high incidence of first trimester miscarriages. Three unbalanced offsprings with a partial 7q monosomy and partial 8p trisomy were diagnosed after prenatal investigations. One female fetus with this unbalanced karyotype has previously been reported. She had a multiple congenital anomalies (MCA) syndrome. In contrast, the present female fetus with the same abnormal karyotype shows only mild facial dysmorfism.