45,X/46,X,r(Y)/46,X,der(Y),r(Y;Y)一例
摘要
患者男,29岁,身高158cm,体重60kg,因附睾炎就诊。查体见体毛稀少。性激素检查:雌二醇、卵泡刺激素、促黄体生成素、垂体泌乳素均在正常范围,睾酮2.62ng/mL(正常参考值2.8~8.0ng/mL)。精液形态分析提示极重度少弱畸精症。
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第1期127-128,共2页
Chinese Journal of Medical Genetics
参考文献6
-
1Gardner RJM, Sutherland GR, eds. Chromosome abnormalities and genetic counselling[M]. New York: Oxford University Press, 1989.
-
2胡琴,王世雄.环状染色体4例报告[J].临床儿科杂志,1995,13(6):381-381. 被引量:4
-
3Lacka K. Turner's syndrome--correlation between karyotype and phenotype[J]. Endokrynol Pol, 2005, 56(6): 986-993.
-
4陈朝晖,唐剑,汤参娥,李宁,叶义言,赖伏英.125例Turner征核型和自然身高的分析[J].湖南医科大学学报,2002,27(4):364-366. 被引量:2
-
5Dong Y, Yu XW, Wang RX, et al. 45,X/46,X,r(Y)/46,X,dic r (Y) karyotype in an azoospermic male: a case report [J]. Cytogenet Genome Res, 2014, 42(2): 140-144. DOI: 10. 1159/ 000356467.
-
6Wilson MG, Stein RB, Towner JW, et al. Ring Y chromosome without mosaicism[J]. Birth Defects Orig Attic Set, 1976, 12 (5) : 105.
二级参考文献8
-
1[1]Palmer CG, Reichman A. X chromosomal and clinical findings in 110 females with Turner syndrome[J]. Hum Genet, 1976,35:35-42.
-
2[2]Park E, Bailey JD, Cowell CA. Growth and maturation of patients with Turners syndrome[J]. Pediatr Res, 1983,17:1-7.
-
3[3]Held KR, Kerber S, Kaminsky E, et al. Mosaicism in 45, X Turner syndrome: dose survive in early pregnancy depend on the presence of two sex chromsomes?[J]. Hum Genet, 1992,88:288-294.
-
4[4]Lyon AL, Preece MA, Grant DB. Growth curve for girls with Turner syndrome[J]. Archives of Disease in Childhood, 1985,60:932-935.
-
5[5]Rank MB, Grauer ML. Adult height in Turner syndrome: results of multinational survey 1993[J]. Homrone Research, 1994,42:90-94.
-
6[6]Naeraa RW, Nielsen J. Standards for growth and final height in Turners syndrome[J]. Acta Paediatr Scand, 1990,79:182-190.
-
7[7]Massa G, Vanderschueren-Lodeweyckx M, Malvaux P. Linear growth in patients with Turner syndrome: influence of spontaneous puberty and parental height[J]. Eur J Pediatr, 1990,149:246-250.
-
8[8]Karlberg J, Ashraf RN, Saleemi M, et al. Early child health in Lahore, Pakistan: XI. Growth.[J]. Acta Paediatr Suppl, 1993,390:119-149.
共引文献4
-
1冯治,韦振邦,李新乐,黄元河.46,XY,r(21)伴无精症的细胞遗传学分析[J].右江民族医学院学报,2009,31(6):957-958.
-
2王游声,傅文婷,许玲,张忆聪,钟银环.21号环状染色体的细胞遗传学分析[J].中国优生与遗传杂志,2014,22(1):43-44. 被引量:1
-
3茅江峰,张红,徐洪丽,伍学焱,柴晓峰,黄炳昆,聂敏,王晓晶,田丹.染色体核型45,XO/46,XY患者的临床特点和Y染色体异常[J].中华内分泌代谢杂志,2014,30(7):582-586. 被引量:15
-
4朱俊真,余小平,祁晓峰,曹琴英,朱文爽,杨丹,张昊昱,宋占云,王世博,王翠霞.罕见双着丝粒环状染色体和衍生环状染色体嵌合体一例[J].中华医学遗传学杂志,2022,39(5):534-536.
-
1王占东,马晓艳,安启哲.血清泌乳素水平异常在功能失调性子宫出血中的意义[J].中国妇幼保健,1996,11(5):33-35. 被引量:2
-
2詹望凤,阳伟华,杨有芹.68例不孕症患者血清泌乳素结果分析[J].衡阳医学院学报,1993,21(1):70-71.
-
3杜云,张雪峰,姜秋菊,段玉玲,高淑玲.垂体泌乳素与妊娠高血压综合征的关系[J].吉林医学院学报,1996,16(3):15-16.
-
4王忠波.87例子宫肿瘤的彩色多普勒血流显像及频谱形态分析[J].中国疗养医学,2009,18(6):550-551. 被引量:2
-
5姜华.继发性闭经患者血清性激素检测的临床意义[J].放射免疫学杂志,2007,20(4):308-309. 被引量:5
-
6胎儿[J].国外科技资料目录(医药卫生),1998(11):80-81.
-
7马芳芳,王厚照,刘芳,史彩虹,田艳.女性不孕患者生殖激素和染色体核型分析[J].中国优生与遗传杂志,2013,21(8):70-71. 被引量:5
-
8张彦岚.绝经前全子宫切除对保留卵巢的影响[J].中国社区医师(医学专业),2011,13(15):98-99. 被引量:2
-
9刘伟丽.罗格列酮治疗多囊卵巢综合征8例[J].实用医药杂志,2007,24(9):1131-1131.
-
10卢祥章.胎儿先天性心脏病的超声诊断及漏诊探析[J].中外医学研究,2015,13(4):55-56. 被引量:7