Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
Purpose: To identify structural chromosomal aberrations (SCAs) in two cases with abnormal reproductive history Materials and Methods: A 36-year-old male proband in a family with abnormal reproductive history were evaluated in 2015 for his wife's inability to become pregnant. Peripheral blood of proband couples, their daughter, proband's second elder sister, and third elder brother were evaluated for chromosome examination, G-banding, 30 metaphases, and five karyotypes were analyzed. Another 27-year-old female proband with abnormal reproductive history were evaluated for infertility in 2014 and 2015. The proband couples', her parents', and her elder brother's peripheral blood was drawn for chromosomal examination. Results: In the first case, the proband's chromosome karyotype was 46, XY, inv(1)(q25q42) and his daughter and second elder sister were 46, XX, inv(1)(q25q42). In the second case, the proband's chromosome karyotype was 46, XX, ins(8;1)(8pter→8p11.2::1p32→1p22::8p11.2→8qter;1pter→1p32::1p22→1qter). Her husband's chromosome karyotype was normal. Conclusions: Inv(1)(q25q42) can exist as a recessive state and can lead to male infertility and female spontaneous abortion. Ins(8;1) can lead to female spontaneous abortion. Since the two mutations may be associated with abnormal reproductive diseases, the identification of them may have an important reference value to diagnose infertility and spontaneous abortion.