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, 采用细胞培养 G 显带及 C 显带的方法, 根据人类遗传学国际命名体制 (ISCN 2009) 对染色体核型命名, 对 2009 年 1 月至 2012 年 7 月就诊广西壮族自治区妇幼保健院检出的新核型进行细胞遗传学及临床分析 在受检者中检出 105 种人类染色体新核型, 经检索国内外文献未见报道 其中易位 86 例, 倒位 10 例, 衍生染色体 6 例, 重复染色体 1 例, 等臂染色体 1 例, 部分重复和缺失 1 例 结果显示, 染色体异常是导致流产 不孕不育 先天畸形 智力低下 闭经等疾病的重要原因 核型 ; 生育异常 ; 产前诊断 Cytogenetic analysis of 105 new human abnormal karyotypes OU Shan, DU Juan, CHEN Shao-Ke, ZHENG Chen-Guang, MENG Da-Hua, ZHANG Hai-Yan, QIU Qing-Ming, LIU Tian-Sheng, TANG Bin Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning 530003, China Abstract: To analyze the genetic effect of the abnormal chromosome karyotype, we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012. The samples were cultured routinely for the karyotype analysis using G banding and C banding. Chromosomal aberrations were named according to the International System for Human Cytogenetic Nomenclature (ISCN 2009). Among tested samples, 105 new human abnormal karyotypes were identified (86 reciprocal translocation, 10 chromosomal inversion, six derivative chromosome, one duplication, one isochromosome, one partial trisomy and monosomy). The results suggest that chromosomal abnormalities were a major cause of miscarriage, infertility, congenital abnormalities, mental retardation and amenorrhea in humans. Keywords: karyotype; clinical reproductive abnormality; prenatal diagnosis 收稿日期 : 2012 11 22; 修回日期 : 2013 01 06 作者简介 :,,, Tel: 0771-5802285; E-mail: oushangenetics@yahoo.com.cn,,, Tel: 0771-5802198; E-mail: dudejuan2000@yahoo.com.cn 通讯作者 :,,, E-mail: chenshaokegenetics@yahoo.com.cn 致谢 : 105, 网络出版时间 : 2013-3-28 9:26:11 URL: http://www.cnki.net/kcms/detail/11.1913.r.20130328.0926.001.html
886 HEREDITAS (Beijing) 2013 35 50%~60% [1],, 35,, 105,, 1 1.1 2009 1 2012 7, ( 2 ) B 3 d~62, 29 1.2 (>22 W ) 5 ml ( ), 37 72 h G C (16~22 W ) (10~13 +6 W ), 37 5 d,, 5, 20, (ISCN 2009) 2 2.1, 45, 36, 4, 10, 6, 4 ( 1) 2.2 105,, 22, 2 86, 10, 6, 1, 1, 1, 2.2.1 病例 1,, 3,, 46, XX, t(6; 7)(q13; q22)( 1), 2.2.2 病例 2,, 8, 46, XX, der(18)t(3; 18)(q23; p11) ( 2), 46, XX, t(3; 18)(q23; p11)( 3), 3 3.1, 1/673~1/1000 [2], 3.5% [3], 1,, 2 46, XX, der(18)t(3; 18)(q23; p11), 46, XX, t(3; 18)(q23; p11) 18, 18 t(3; 18),,,,, 18 1/18 2:2
7 : 105 887 表 1 105 种人类染色体新核型及其临床诊断 / 43 46, XX, t(1;8)(q23;p21) 1 46, XX, t(2; 10)(p11; p11) 44 46, XX, t(1;2)(q43;p23) 2 46, XY, t(8; 13)(q24; q14) 45 46, XY, t(6;11)(p21;p23) 3 46, XX, t(6; 16)(p21; q11) / 4 46, XY, t(4; 15)(p15; q25) 46 46, XY, t(8; 15)(q22; q24) 5 46, XX, t(7; 13)(p11; q12) 47 46, XY, inv(10)(p22q11) 6 46, XY, t(5; 13)(q13; q12) 48 46, XX, inv(4)(p12q21) 7 46, XX, t(6; 7)(q15; q33) 49 46, XY, inv(6)(p11.1q21.1) 8 46, XX, t(3; 15)(q25; q15) 50 46, XY, t(8;10)(p22;q25) 9 46, XY, t(10; 11)(q22; q25) 51 46, XX, inv(4)(p15.2q16.2) 10 46, XY, t(1; 3)(p32; q13) 52 46, XX, t(4; 20)(q27; q13) 11 46, XX, t(5; 7)(p15.1; q11.2) 53 46, XX, t(5; 12)(p13; p12) 12 46, XX, t(9; 13)(q22; q34) 54 46, XY, t(6; 8)(q23; q21) 13 46, XX, t(10; 16)(q25.2; q13) 55 46, XY, t(15; 18)(q21; p11) 14 46, XX, t(7; 21)(p13; q26) / 15 46, XY, t(3; 11)(p23; q23) 56 46, XX, t(4; 14)(q31.3; q24.3) 16 46, XY, t(2; 9)(q13; q32) 57 46, XX, t(3; 16)(q25; q12) 17 46, XY, t(2; 20)(q33; q13) 58 46, XY, t(5; 10)(q31; q21) 18 46, XY, t(5; 17)(q13 ;p11) 59 46, XX, inv(2)(q33q35) 19 46, XX, t(8; 14)(p21; q24) 60 46, XX, t(8; 11)(p23; p11) 20 46, XX, t(3; 17)(q21; q11.2) 61 46, XX, t(7; 9)(p11; q11) 21 46, XX, t(5; 17)(p15; q12) 62 46, XX, t(13; 22)(p12; q11) 22 46, XY, t(1; 21)(q41; q21) 63 46, XX, inv(20)(p12q12) 23 46, XY, t(5; 8)(q11; p23) 64 46, XY, inv(10)(p12q22) 24 46, XX, t(5; 13)(p13; q21) 65 46, XY, t(1; 7)(q21; p13) 25 46, XX, t(8;22)(p24; q11) 66 46, XY, der(14)t(12; 14)(q15; q22) 26 46, XX, t(2; 7)(q23; p15) 67 46, XX, t(6; 18)(q21; q12) 27 46, XX, t(7; 17)(q32; q25) 68 46, XX, t(1; 19)(q11; p11) 28 46, XY, t(12; 18)(q15; q21) 69 46, XX, t(4; 11)(q21; q21) 29 46, XX, t(1; 21)(p34; q22) 70 46, XY, t(7; 8)(p13; q13) 30 46, XX, t(11; 15)(q43; q22) 71 46, XX, t(10; 15)(q23; q15) 31 46, XX, t(1; 11)(q44; p15) 72 46, XX, t(3; 19)(q23; q13) 32 46, XY, t(7; 21)(q31; q22) 73 46, XX, inv(15)(q21q24) 33 46, XX, t(12; 18)(q14; q22) 74 46, XY, t(2; 11)(q31; q21) 34 46, XY, t(4; 21)(q24; p22) 75 46, XX, t(9; 11)(q22; q23) 35 46, XX, t(3; 5)(p11; q31) 76 46, XY, der(10)t(y;10)(p15;q10) 36 46, XY, t(3; 22)(p21; q13) 77 46, XX, rec(9)dup(9q)inv(9)(p22q34) 37 46, XX, t(2; 17)(q32; q23) 78 46, XX, inv(9)(p22q34) 38 46, XX, t(5; 14)(p10; q10) 79 46, XX, t(1; 3)(q21; p21) 39 46, XX, t(3; 8)(p25; p11) 80 46, XY, t(1; 14)(p13; q24) 40 46, XX, t(5; 13)(p13; q12) 81 46, XX, t(6; 7)(q15; q33) 41 46, XY, t(1; 11)(q21; q13) 42 46, XY, t(2; 11)(p13; p15) 82 45, XX, der(5)t(5; 14)(p15.1; q11.2), -14
888 HEREDITAS (Beijing) 2013 35 续表 1 83 46, XX, -13, der(19)t(13; 19)(q11; q13), +21 / / 84 46, XX, t(2; 14)(p23; q13) 96 46, XX, der(15)t(y; 15)(q12; p12) 85 46, XY, t(1; 8)(q43; p21) 97 46, XY, dup(4)(q27q35) 98 46, XX, t(6; 7)(q13; q22) 86 46, XY, t(y; 1)(p11; p34) 99 46, XY, inv(2)(p13q37) 87 46, XY, t(4; 15)(q12; q26) 100 46, XX, t(4; 16)(p16; p13) 88 46, XY, t(6; 10)(p21.3; q11.2) 101 46, XX, der(18)t(3; 18)(q23; p11) 89 46, XX, t(10; 18)(p13; q12.2) 90 46, XY, t(4; 9)(p24; q21) 102 45, X[39] /46, X, i(x)(q10)[22] /47, X, i(x) 91 46, XX, t(5; 6)(q31; p23) (q10) 2[21] /46, i(x)(q10) 2[18] 92 46, XX, t(3; 9)(p25; q22) 103 46, XX, t(x; 1)(q13; q32) 93 46, XY, t(11; 19)(p11; p13) 104 46, XY, t(2; 9)(q11; q22) 94 46, XY, t(6; 14)(p11; q11) 105 46, XY, t(9; 10)(p13; p13) 95 46, XY, t(14; 20)(p11; q11) 图 1 病例 1 先证者核型 :46, XX, t(6; 7)(q13; q22) 图 3 病例 2 先证者父亲核型 :46, XX, t(3; 18)(q23; p11) [5], 1/18,, 2%~10%, [5],, [6] 3.2 图 2 病例 2 先证者核型 :46, XX, der(18)t(3; 18)(q23; p11) 10, 8, 2 9
7 : 105 889,, 1% [7],, 4,,,, 1 77 78 77, 46, XX, rec(9)dup(9q)inv(9)(p22q34)mat, 46, XX, inv(9)(p22q34), 9q34 9qer 9pter 9p22 46, XX, inv(2)(q33q35) 46, XX, inv(15)(q21q24) 4,,,,,, [8] 3.3,, [9],, [10],,,,,,, 105, 参考文献 (References): [1] Menasha J, Levy B, Hirschhorn K, Kardon NB. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med, 2005, 7(4): 251 263.DOI [2] Van Dyke DL, Weiss L, Roberson JR, Babu VR. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet, 1983, 35(2): 301 308. DOI [3] Stephenson MD. Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril, 1996, 66(1): 24 29. DOI [4] Vanneste E, Melotte C, Voet T, Robberecht C, Debrock S, Pexsters A, Staessen C, Tomassetti C, Legius E, D'Hooghe T, Vermeesch JR. PGD for a complex chromosomal rearrangement by array comparative genomic hybridization. Hum Reprod, 2011, 26(4): 941 949. DOI [5] Munné S, Bahçe M, Schimmel T, Sadowy S, Cohen J. Case report: Chromatid exchange and predivision of chromatids as other sources of abnormal oocytes detected by preimplantation genetic diagnosis of translocations. Prenat Diagn, 1998, 18(13): 1450 1458. DOI [6] Sermon KD, Michiels A, Harton G, Moutou C, Repping S, Scriven PN, SenGupta S, Traeger-Synodinos J, Vesela K, Viville S, Wilton L, Harper JC. ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod, 2007, 22(2): 323 336. DOI [7] Buckton KE, O Riordan ML, Jacobs PA, Robinson JA, Hill R, Evans HJ. C- and Q-band polymorphisms in the chromosomes of three human populations. Ann Hum Genet, 1976, 40(1): 99 112. DOI [8] Braeme GM, Leversha M, Hulten M, Ferguson-Smith MA, Affara NA, Furlong RA. Genetic analysis of meiotic recombination in humans by use of sperm typing: reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34. 3. Am J Hum Genet, 1998, 62(6): 1484 1492. DOI [9],,,,,,,,. 3405., 2008, 28(5): 268 272. DOI [10],,,,,,,. 359., 2011, 19(8): 27 29. DOI