12号环状染色体与严重少精子症：一例报告
Ring chromosome 12 and severe oligospermia: a case report.
作者信息
Martin J Ryan, Wold Anne, Taylor Hugh S
机构信息
Division of Reproductive Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06520-8063, USA.
出版信息
Fertil Steril. 2008 Aug;90(2):443.e13-5. doi: 10.1016/j.fertnstert.2007.07.1347. Epub 2007 Sep 19.
Abstract
OBJECTIVE
To describe an unusual presentation of ring chromosome 12, which manifested as severe azoospermia, resulting in male infertility.
DESIGN
Case report.
SETTING
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.
摘要
目的
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。
设计
病例报告。
地点
一家三级护理医院的体外受精中心。
患者
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。
干预措施
采用植入前基因诊断的体外受精。
主要观察指标
确认在严重少精子症患者中进行核型分析的重要性。
结果
使用供体精子进行体外受精后足月妊娠。
结论
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。
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本文引用的文献
1
Male infertility: evaluation and sperm retrieval.男性不育症：评估与精子获取
Clin Obstet Gynecol. 2006 Mar;49(1):55-72. doi: 10.1097/01.grf.0000197267.02541.ae.
2
Mosaic ring Y chromosome in two normal healthy men with azoospermia.两名患有无精子症的正常健康男性中的嵌合环状Y染色体。
Fertil Steril. 2005 Dec;84(6):1744. doi: 10.1016/j.fertnstert.2005.06.034.
3
Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.一名患有12号环状染色体综合征患者的小头畸形与咖啡斑的关联。
Clin Dysmorphol. 2005 Jul;14(3):141-143.
4
Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.
Am J Med Genet A. 2003 Mar 15;117A(3):275-7. doi: 10.1002/ajmg.a.10044.
5
Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility.染色体异常和Y染色体微缺失作为男性不育的致病因素。
Hum Reprod. 1998 Apr;13 Suppl 1:45-50. doi: 10.1093/humrep/13.suppl_1.45.
6
Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
Am J Med Genet. 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S.
7
Cutaneous findings in ring chromosome 7 syndrome.
Dermatology. 1993;186(2):84-7. doi: 10.1159/000247313.
8
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.环状染色体融合点处端粒和亚端粒序列的存在表明环状染色体综合征是由环状染色体不稳定引起的。
Hum Genet. 1993 Aug;92(1):23-7. doi: 10.1007/BF00216140.
9
The syndrome of ring chromosome 12.12号环状染色体综合征
Am J Med Genet. 1980;5(2):165-70. doi: 10.1002/ajmg.1320050210.
10
Chromosome studies in 952 infertile males with a sperm count below 10 million/ml.
Hum Genet. 1985;71(4):366-7. doi: 10.1007/BF00388466.
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