摘要
例1男,26岁。结婚2年,性生活正常,妻子未孕。严重少精子症。精液常规检查:
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第6期764-765,共2页
Chinese Journal of Medical Genetics
基金
山东省科技攻关计划(2008GG10002063)
山东省自然基金联合专项(ZR2012CL10)
参考文献2
-
1Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol, 2006, 22: 1:33-141.
-
2Oliver-Bonet M, Benet J, Sun F. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod, 2005, 20: 683-688.
同被引文献29
-
1Jacobs PA, Browne C, Gregson N, et al. Estimates of the fre- quency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding [J]. J Med Genet, 1998,29(2):103-108.
-
2Morteza H, Yang XJ, Chart P, et al. Characterization of a com- plex chromosomal rearrangement using chromosome, FISH and microarray assays in a girl with multiple congenital abnormalities and developmental delay [J]. Mol Cytogenet, 2014,7(2):51- 57.
-
3Lossi AM, Laugier-Anfossi F, Depetris D, et al. Abnormal ex- pression of the KLFg (ZNF741) gene in a female patient with an X; autosome translocation and non-syndromic mental retardation [J]. J Med Genet, 2002,39(2) : 113-117.
-
4Chen CP, Chem SR, Lee CC, et al. Prenatal diagnosis of a re-view of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements [J]. Prenat Diagn, 2006,26(2) : 138-146.
-
5Warburton D. De novo balanced chromosome rearrange-merits and extra marker chromosome identified at prenatal diagnosis: clinical significance and distribution of break-points [J]. Am J Hum Genet, 1991,49(4) :995-1013.
-
6Paramayuda C, Kartapradja H, Ambarwat D, et al. Chromosome abnormalities in Indonesian patients with short stature[J].Mol Cytogenet, 2012, 5:35.
-
7Haverkamp F, Wolefe J, Zerres K, et al. Growth retardation in Turner s syndrome :aneuploidy, rather than specific gene loss, may explain growth failnre[J].J Clin Endocrinol Metab, 1999,84:4578.
-
8Oliveira CS, Alves C. The role of the SHOX gene in the pathophysiology of Turner syndrome[J].Endocrinol Nutr, 2011,58 . 433-442.
-
9Lossi A-M, Laugier-Anfossi F, Depetris D, et al. Abnormal expression of the KLF8 (ZNF741)gene in a female patient with an X autosome translocation and non-syndromic mental retardation[J].J Med Genet, 2002, 39 (2) . 113-117.
-
10Kant SG, Wit JM, Breuning MH, et al. Genetic analysis of short stature[J], Horm Res, 2003,60 .- 157-165.
引证文献8
-
1罗小金,胡亮,冉健,魏凤香.羊水染色体平衡易位在产前诊断中的分析[J].实用医学杂志,2015,31(23):3904-3906. 被引量:6
-
2罗小金,郭岩芸,朱自然,魏凤香.深圳地区身材矮小儿童染色体核型分析[J].中国优生与遗传杂志,2016,24(2):68-69. 被引量:3
-
3罗小金,郭岩芸,朱自然,魏凤香.身材矮小儿童的细胞遗传学分析[J].实用医学杂志,2016,32(6):976-978. 被引量:7
-
4张春慧,薛秀华,蔡仁梅.世界首报6例染色体异常核型及临床研究[J].中国优生与遗传杂志,2017,25(5):67-68. 被引量:2
-
5吕深,韦升市,温丽娟,罗小金.265例身材矮小儿童的染色体核型分析[J].中国优生与遗传杂志,2018,26(2):41-42.
-
6罗小金,胡亮,裴元元,冉健,魏凤香.36例染色体相互易位胎儿的孕中期产前诊断分析[J].中国优生与遗传杂志,2018,26(2):43-45.
-
7刘露,罗小金,郭岩芸,王绍娟.罕见染色体复杂易位伴不良孕育史四例[J].妇产与遗传(电子版),2015,5(3):20-23. 被引量:2
-
8彭措吉,刘淑敏,张世宽,齐国昌.一例复发性自然流产染色体核型分析[J].青海医药杂志,2021,51(11):53-54.
二级引证文献19
-
1玛依拉·阿不都热依木,米热古丽·买买提.儿童染色体异常核型分析进展[J].中国优生与遗传杂志,2020(7):786-788. 被引量:3
-
2罗小金,郭碧芸,胡亮,冉健,余韬,魏凤香.孕中期染色体非平衡易位胎儿的产前诊断分析[J].实用医学杂志,2016,32(15):2483-2485. 被引量:2
-
3罗小金,郭碧芸,余韬,魏凤香.产前诊断中罗伯逊易位胎儿的细胞遗传学分析[J].中国医师杂志,2016,18(12):1848-1850.
-
4廖亚平,王春景,梁猛,胡小梅,吴琦.平衡复杂染色体重排携带者的遗传与生育情况分析[J].遗传,2017,39(5):396-412. 被引量:23
-
5罗小金,魏凤香,胡亮,裴元元,冉健,李高驰.产前胎儿染色体倒位的临床诊断分析[J].实用医学杂志,2017,33(13):2183-2185. 被引量:15
-
6伏广照.临沂地区380例身材矮小患儿外周血染色体核型分析[J].中国优生与遗传杂志,2017,25(8):58-59.
-
7沈凌花,杨志刚.小儿遗传代谢内分泌病60例临床分析[J].临床研究,2017,25(9):102-103.
-
8刘楠,佟彤,陈悦.725例身材矮小儿童染色体核型结果分析[J].中国优生与遗传杂志,2018,26(7):44-45. 被引量:2
-
9马威,魏波,张慧萍.羊水染色体平衡易位在产前诊断中的分析[J].药品评价,2016,13(B12):128-128.
-
10孙海玲,张梅,潘慧,汲宝兰,张艳红,班博.鲁西南地区矮小症儿童染色体核型分析[J].济宁医学院学报,2018,41(2):111-114.
-
1冯丽云,杨晶.t(Y;4)伴无精子症一例[J].中华医学遗传学杂志,2002,19(4):294-294.
-
2张明,孟和宝力高,郭兰英,邹丹,贺琪琪.严重少精子症患者Y染色体微缺失一家系分析[J].中国优生与遗传杂志,2011,19(8):50-50.
-
3涂向东,张宝珍.男性染色体异常核型六例[J].中华医学遗传学杂志,2008,25(1):119-119.
-
4王少敏,曲林琳,王军荣.涉及四条染色体的复杂易位一例[J].中华医学遗传学杂志,2012,29(2):148-148. 被引量:2
-
5苏京荣,李琳.染色体平衡易位两家系四例[J].中华医学遗传学杂志,2016,33(3):352-352.
-
6牟海燕,黄波,郑剑锋.46,Y,t(X;22)平衡易位伴不育一例[J].中华医学遗传学杂志,2014,31(6):729-729.
-
7王连芝,李琳.染色体平衡易位四例[J].中华医学遗传学杂志,2011,28(4):470-470.
-
8岳发贵,姜雨婷,史青杨,罗丽丽,靖吉丽,刘睿智.1号染色体平衡易位伴男性生精障碍六例[J].中华医学遗传学杂志,2015,32(2):305-306. 被引量:2
-
9李琳,卢志贺,郑书琪,张继霞.染色体平衡易位伴不良孕产四例[J].中华医学遗传学杂志,2014,31(1):122-122. 被引量:1
-
10王晓旭.染色体异常一家系二例[J].中华医学遗传学杂志,2014,31(4):443-443.