ABSTRACT
Background: A balanced reciprocal translocation is a structural abnormality, which at least consist of breakage of two non-homologous chromosomes along with pieces exchange and form quadrivalant structure that can produce unbalanced chromosomes during meiosis I and result in a fetus abortion. The aim of the present study is to offer using Preimplantation Genetic Diagnosis [PGD] 24sure array, which delivers aneuploidy screening of 24 chromosomes, within a few hours to increase fertility and bearing a child without chromosomal abnormality of this couple. This technique could replace embryo donation for child bearing of this couple
Case presentation: A young couple with recurrent pregnancy loss in 6th and 7[th] week of pregnancy without family history of recurrent miscarriage and any clinical signs had conferred. All laboratory tests including hormonal, infections, semen and hys-terosalpingography were normal except karyotype that showed balanced reciprocal translocation between chromosomes 5 and 18 in male. Chromosomal study of male parents showed normal karyotype
Conclusion: A balanced reciprocal translocation carrier is phenotypically normal, but during meiosis I, carrier chromosomes cant pair normally and form quadrivalant instead of bivalant that depend on type of their segregation [alternate, adjacent 1, adjacent 2,3:1,4:0], produce gametes that are chromosomally unbalanced which can result in early fetus abortion. Considering the number of abnormal gametes, the most effective way to help couples with this problem seems to be PGD 24sure, since it can identify reciprocal and Robertsonian translocation and allows concurrent screening of all chromosomes for aneuploidy. Another technique that can be compared with PGD 24sure is fluorescence in situ hybridization [FISH], but it has several technical limitations such as it is expensive and complexity, in addition it has only few probes [for chromosomes 21, 13, 18, X, Y] so sometimes necessary to create patient specific protocols
ABSTRACT
Breast cancer is the most common cancer in women. Non-coding RNAs especially miRNAs have important regulatory roles in cancer. MiRNAs are 21-24 nucleotides which have different levels of expression between tumors and normal tissues. In this study, we have analyzed expression level of miR-520d in three different groups of breast cancer. Fifty nine samples were divided into different groups according to their immunohistochemistry [IHC] classification: estrogen receptor [ER] positive and/or progesterone receptor [PR] positive group [as group I]; human epidermal growth factor receptor 2 [HER2] positive group [as group II]; and Triple negative group [as group III]. After small RNA extraction from tissues, cDNAs were synthesized and Real time RTPCR carried out using DNA binding dye. Expression levels were analyzed by LinRegPCR and REST software. MiR-520d under- expressed in all of three different groups. The expression ratio in groups I, II, and III were 0.193, 0.167, 0.21, respectively, but only the result from group II was significant [P=0.017]. According to the different clinicopathological status of breast cancer, miR-520d underexpressed significantly not only in patients with metastatic lymph node [P=0.019] but also in patients which have cancer at stage three [P=0.036]. In this study, we found that miR-520d possibly acts as a tumor suppressor. It may be useful for diagnosis of tumor from normal tissue. In addition, miR-520d significantly underexpressed in HER-2 positive group of breast cancers. Therefore, it may be useful as an additional diagnostic test in this group of breast tumors along with other biomarkers.