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

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.

A case of carcinosarcoma of uterine endometrium associated with Tamoxifen use in breast cancer patient / 대한산부인과학회잡지

Tamoxifen, which is often used in breast cancer therapy, has also been used in the treatment of patients with advanced and recurrent endometrial carcinoma. Tamoxifen has been shown to have significant benificial effects in the treatment of breast cancer patients as hormonal therapy. However, there is evidence that tamoxifen may affect other hormone sensitive organs, including the uterus and ovaries. An increased risk of endometrial polyps, endometrial hyperplasia and endometrial cancer has been reported in tamoxifen treated women. We are able to make this report because we have experienced uterine endometrial carcinosarcoma which is developed in a patient treated with tamoxifen for five years following a modified radical mastectomy due to breast cancer in our hospital.