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Clinical and Experimental Obstetrics & Gynecology  2018, Vol. 45 Issue (5): 775-777    DOI: 10.12891/ceog4478.2018
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Abnormal reproductive history associated with aberrant chromosomal structure: two cases
Hailong Zhai1, Zhongjuan Li1, †, Haibo Zhu2, *(), Jianping Deng2, Hongliang Wang3
1 Hubei Polytechnic University, Medical School, Huangshi, Hubei, China
2 Huangshi Aikang Hospital, Huangshi, Hubei, China
3 Huangshi Central Hospital, Huangshi, Hubei, China
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Abstract  
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.
Key words:  Inv(1)(q25q42)      Ins(8;1)      Chromosomal aberrations      Infertility      Spontaneous abortion     
Published:  10 October 2018     
*Corresponding Author(s):  HAIBO ZHU     E-mail:  zhl135246@sohu.com
About author:  † Contributed equally.

Cite this article: 

Hailong Zhai, Zhongjuan Li, Haibo Zhu, Jianping Deng, Hongliang Wang. Abnormal reproductive history associated with aberrant chromosomal structure: two cases. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(5): 775-777.

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https://ceog.imrpress.com/EN/10.12891/ceog4478.2018     OR     https://ceog.imrpress.com/EN/Y2018/V45/I5/775

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