A Case Analysis of Chromosome Complex Karyotype Abnormality and AZF Microdeletion Causing Male Infertility

丽霞 杨

doi:10.12677/acm.2018.89134

A Case Analysis of Chromosome Complex Karyotype Abnormality and AZF Microdeletion Causing Male Infertility

Advances in Clinical Medicine ◽

10.12677/acm.2018.89134 ◽

2018 ◽

Vol 08 (09) ◽

pp. 804-806

Author(s):

丽霞杨

Keyword(s):

Male Infertility ◽

Case Analysis ◽

Complex Karyotype ◽

Karyotype Abnormality

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Pure erythroid leukemia in a polymyositis patient treated with azathioprine

Rare Tumors ◽

10.1177/2036361318773847 ◽

2018 ◽

Vol 10 ◽

pp. 203636131877384 ◽

Cited By ~ 1

Author(s):

Osamu Imataki ◽

Akihiro Takeuchi ◽

Shumpei Uchida ◽

Shigeyuki Yokokura ◽

Makiko Uemura ◽

...

Keyword(s):

Bone Marrow ◽

Acute Myeloid Leukemia ◽

Myeloid Leukemia ◽

Bone Marrow Cells ◽

Low Grade ◽

Complex Karyotype ◽

Japanese Female ◽

Old Japanese ◽

Karyotype Abnormality ◽

Acute Myeloid

Acute erythroid leukemia, also known as acute myeloid leukemia-M6, may be associated with previous chemotherapy or immunosuppressive therapy. For 10 years, a 69-year-old Japanese female patient with pure erythroid leukemia (or acute myeloid leukemia-M6b) was treated for polymyositis with 50–100 mg/day azathioprine. She complained of dyspnea with low-grade fever and was diagnosed as having pure erythroid leukemia. Chromosomal analysis revealed a complex karyotype abnormality, with the deletion of 5q, -6, -7 and addition of 11q13. No morphological myelodysplastic changes were observed in her bone marrow cells. In this study, azathioprine accumulation was considered to be associated with the patient’s leukemogenesis.

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Cellular and Molecular Genetic Analysis of 1980 Male Infertility Patients

10.21203/rs.3.rs-958868/v1 ◽

2021 ◽

Author(s):

Meimei Fu ◽

Meihuan Chen ◽

Nan Guo ◽

Min Lin ◽

Ying Li ◽

...

Keyword(s):

Male Infertility ◽

Y Chromosome ◽

Karyotype Analysis ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Common Type ◽

Azoospermia Factor ◽

Deletion Rate ◽

Karyotype Abnormality ◽

Infertility Patients

Abstract Background The aims of this study were to investigate the distribution of chromosome karyotype abnormality and azoospermia factor (AZF) microdeletion on Y chromosome in male infertility patients and its effect on infertility. Further, the study aimed to guide fertility in patients. Methods A total of 1980 azoospermic and oligoospermic male infertility patients were selected from the male outpatient department of our hospital from January 2016 to December 2019. Peripheral blood was collected from the patients for karyotype analysis. Further, AZF microdeletion analysis on Y chromosome was performed by capillary electrophoresis. Results Among the patients of male infertility, 178 had chromosomal abnormality (8.99%, 178/1980). Among them, 98 had an abnormal chromosome number. Among the 98 patients, 47, XXY was the most common (80 cases), accounting for 44.99 % (80/178) of abnormal karyotypes. There were 211 cases of AZF microdeletion on Y chromosome, with a total deletion rate of 10.66% (211/1980). The most common type was AZFb/c deletion (sY1192 140 cases), accounting for 66.3 % (140/211). Conclusion Karyotype abnormality and AZF gene microdeletion are important causes of male infertility. Men with Yqh-, del(Y) (q11) have a higher risk of AZF microdeletion. Infertility patients should routinely undergo cell and molecular genetic tests to guide patient fertility.

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