We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.
Abnormalities, Multiple/embryology ; Abnormalities, Multiple/genetics* ; Abortion, Habitual/genetics ; Abortion, Therapeutic ; Adult ; Chromosome Disorders/embryology ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 2/ultrastructure* ; Chromosomes, Human, Pair 7/ultrastructure* ; Female ; Fetal Diseases/genetics ; Fetal Diseases/pathology ; Fetus/abnormalities* ; Human ; Male ; Monosomy* ; Phenotype ; Pregnancy ; Translocation (Genetics)* ; Trisomy*