Journal List > J Korean Med Sci > v.18(1) > 1019533

Lee, Ahn, Koo, Kwon, Lee, Lee, Nam, and Lee: Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

Abstract

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.

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