Martin J Ryan, Wold Anne, Taylor Hugh S
Division of Reproductive Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06520-8063, USA.
Fertil Steril. 2008 Aug;90(2):443.e13-5. doi: 10.1016/j.fertnstert.2007.07.1347. Epub 2007 Sep 19.
To describe an unusual presentation of ring chromosome 12, which manifested as severe azoospermia, resulting in male infertility.
Case report.
In vitro fertilization center at a tertiary care hospital.
PATIENT(S): A 27-year-old man diagnosed with unexplained azoospermia and ring chromosome 12 abnormality during a workup for primary infertility.
INTERVENTION(S): In vitro fertilization with preimplantation genetic diagnosis.
MAIN OUTCOME MEASURE(S): To confirm the importance of obtaining karyotypes in individuals with severe oligospermia.
RESULT(S): Full-term pregnancy after IVF using donor sperm.
CONCLUSION(S): Severe oligospermia and male infertility should be included in the spectrum of findings found in ring chromosome 12.
描述12号环状染色体的一种不寻常表现，其表现为严重无精子症，导致男性不育。
病例报告。
一家三级护理医院的体外受精中心。
一名27岁男性，在原发性不育症检查过程中被诊断为不明原因的无精子症和12号环状染色体异常。
采用植入前基因诊断的体外受精。
确认在严重少精子症患者中进行核型分析的重要性。
使用供体精子进行体外受精后足月妊娠。
严重少精子症和男性不育应纳入12号环状染色体的发现范围。
Zotero 插件