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1 HEREDITAS (Beijing) , 31(2): ISSN 研究报告 DOI: /SP.J 例临床生育不良者异常染色体核型分析及 32 种人类染色体新核型报告覃靖 1, 郑陈光 1, 杜娟 1, 陈科 1, 田晓先 1, 相蕾 2, 孙亮 2, 杨泽 1.,, ; 2.,, 为了探讨异常染色体核型在临床生育不良人群中的分布及其与临床生育结局的关系, 采用常规方法制备外周血淋巴细胞染色体, 经 G 显带, 对例临床生育不良者做了外周血染色体核型分析, 检查出异常核型 550 例其中三体核型 255 例占 46.36%, 相互易位 91 例占 16.55%, 染色体倒位 85 例占 15.45%, 染色体缺失 81 例占 14.73%, 罗伯逊易位 21 例占 3.82%, 短臂增加 7 例占 1.27%, 大丫 6 例占 1.09%, 随体异常 4 例占 0.73% 其中 32 例为首次报道的新核型其临床结局有流产不育先天畸形等结果表明携带异常核型染色体, 可能是影响生育的重要原因之一新核型 ; 异常核型 ; 染色体 ; 临床生育不良 Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes QIN Jing 1, ZHENG Chen-Guang 1, DU Juan 1, CHEN Ke 1, TIAN Xiao-Xian 1, XIANG Lei 2, SUN Liang 2, YANG Ze 2 1. Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning , China; 2. Institute of Geriatrics and Beijing Hospital, Minstry of Health, Beijing , China Abstract: To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events. Keywords: new karyotype; abnormal karyotype; chromosome; clinical reproductive abnormality 收稿日期 : ; 修回日期 : 基金项目 : ( , ), (973 ) ( 2006CB503901), ( 2006DKA21301) 作者简介 : ( ),,, 通讯作者 : (1955 ),,,, yangze016@yahoo.com.cn

2 2 : (Chromosomal disease) 5%~10%, 50% [1, 2],,,,, ml,,,, G : 5 224, 90.47%; 550, 9.53%( 1) %,, %, % 14.73%, %, %, Y %, %( 1) % 2, 5 20%, ( ) 细胞培养 0.2 ml, 20% 2% PHA ph 7.2 RPMI 1640, h, 2 h 0.2 g/ml 染色体标本制备, G, C 33 3, 产前诊断 32 2, 18 w, B, 20 图 1 异常染色体分布 t: ; rob: ; inv: ; del: ; tri: ; others: , 5, 32 ( 1) 2.3, 32 1: 3, d, : 46, XX, t(4; 13; 10)(pl2; q23; ql4), 46, XY, t(2; 20; 4; 13; 10)(2q3; 20p 1 2)(20p12; 2q31)(4p12; 10q23)(10q23; 13q14)( 2)

3 144 HEREDITAS (Beijing) : 25 46, XX, t(12; 17), 43 d,,, 5 min 5,,, ( 3) 3,,,,,, , 30, 1/ % 表 1 世界首报 32 种人类染色体新核型 46, XX, t(12; 17)(q15; q21) 3 46, XX, t(2; 3)(p23; p11) 46, XX, t(9; 18)(p23; p11) 1, 1 46, XX, inv(5)(q22; q32), ( 2 cm ) 46, XX, t(9; 15)(q32; q15) 3 46, XX, t(4; 13; 10)(p12; q23; p14) 4 46, XX, t(4; 18; 12; 10)(p11; q11; p13; q11) 1, 1 46, XY, t(8; 21)(q11; q22) 1, 3 46, XY, t(11; 21)(q23; q11) 4 46, XX, t(9; 20)(q22; q11) 3 46, XY, t(6; 21)(q11; q22) 2 46, XX, t(6; 20)(q23; q13), 2 46, XX, t(7; 10)(q13; q26) 3 46, XX, t(2; 7)(q22; q34), 46, XY, t(7; 16)(q22; q13) 46, XY, t(14; 18)(q21; q21) 46, XX, t(3; 6; 11)(p25; p23; p13) 3 46, XX, t(3; 4)(p12; p25) 2 46, X, t(x; 6)(q22; q25) 46, XX, t(10; 16)(q11; q11) 2 46, XX, t(x; 7)(p11; p15) 46, XX, t(12; 15)(q22; q15) 3 45, /46, X, psu dic(x) 46, XX, t(1; 4)(q24; q35) 2, 1 46, XX, t(1; 16)(p13; q13) 2 46, XX, t(10; 22)(q24; q11) 46, XX, t(12; 14)(q15; q15) 4 46, XX, t(2; 20)(4; 13; 10) 2, 1 46, XX, t(6; 17)(p21; q23), 46, XX, t(4; 11)(p16; p15) 46, XX, t(9; 21)(p23; q21) 3 46, XX, 1qh+ t(4; 10; 18) 1, 1

2 : 5774 32 145 图 2 先证者 46, XX, t(4; 13; 10)(pl2; q23; ql4) A:

4],,, 45 13 14, 15 21 18 [5, 6] 6,,, 4 ;,,,,,,,, : 94%(30 ),,

4 2 : 图 2 先证者 46, XX, t(4; 13; 10)(pl2; q23; ql4) A: ; B: 图 3 先证者 46, XX, t(12; 17) A: ; B: : (1),, ; (2),, [3, 4],,, , [5, 6] 6,,, 4 ;,,,,,,,, : 94%(30 ),, 32 ( 2 3), , XX, t(4; 13; 10)(pl2; q23; ql4)), , XX, t(12;

5 146 HEREDITAS (Beijing) ),,,,,,,,,,,, 18, 18, 18,,, 16 [7~9],,,,,,,, [10], 5 574,, 32, 参考文献 (References): [1] Philipp T, Philipp K, Reiner A, Beer F, Kloues DK. Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of develo- pmental defects of early failed pregnancies. Hum Reprod, 2003, 18(8): [DOI] [2] Khoury MJ, Erickson JD. Recurrent pregnancy loss as an indicator for increased risk of birth defects: a population-based case controlstudy. Paediatr Perinat Epidemiol, 1993, 7(4): [DOI] [3] Lespinasse J, North MO, Paravy C, Brunel MJ, Malzac P, Blouin JL. A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure. Hum Reprod, 2003,10(18): [DOI] [4] Daniel A, Bone A, Gallano P. Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European Collaborative Prenatal Diagnosis Centres. Prenal Diagn, 1986, 6(5): [DOI] [5] Escudero T, Lee M, Carrel D, Blanco J, Munne S. Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenat Diagn, 2000, 20(7): [DOI] [6] Ogur G, Van Assche E, Vegetti W, Verheyen G, Tournaye H, Bonduelle M, Van Steirteghem A, Liebaers I. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod, 2006, 12(3): [DOI] [7] Scarinci R, Anichini C, Vivarelli R, Berardi R, Pucci L, Rosaia L, Tomaccini D. Correlation of the clinical phenotype with a pericentric inversion of chromosome 9. Boll Soc Ital Biol Sper, 1992, 68(3): [8] Allderdice PW, Kaita H, Lewis M, McAlpine PJ, Wong P, Anderson J, Giblett ER. Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9. Am J Hum Genet, 1986, 39(5): [9] Bernstein R, Wadee A, Rosendorff J, Wessels A, Jenkins T. Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa. 1986, Hum Genet, 74(3): [10] Kim SK, Kim HJ, Yang YH, Kim IK, Bai SW, Kim JY, Park KH, Cho DJ, Song CH. A case with balanced chromosome rearragement involving chromosomes 9, 14, and 13 in a woman with recurrent. Younsei Medical J, 2001, 42(3):

Microsoft Word 欧珊.doc

Microsoft Word 欧珊.doc HEREDITAS (Beijing) 2013 7, 35(7): 885 889 ISSN 0253-9772 www.chinagene.cn 研究报告 DOI: 10.3724/SP.J.1005.2013.00885 105 种人类染色体新核型的细胞遗传学报道欧珊, 杜娟, 陈少科, 郑陈光, 蒙达华, 张海燕, 邱庆明, 刘天盛, 唐斌,, 530003 为了探讨异常染色体的遗传效应,