title: 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.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: S G
authors.initials: SG
authors.lastname: Frints
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases; D006801:Humans; D007621:Karyotyping; D009006:Monosomy / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*