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  1. NTU Theses and Dissertations Repository
  2. 生命科學院
  3. 動物學研究所
請用此 Handle URI 來引用此文件: http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/75494
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dc.contributor.authorMei Chenen
dc.contributor.author陳玫zh_TW
dc.date.accessioned2021-07-01T08:13:30Z-
dc.date.available2021-07-01T08:13:30Z-
dc.date.issued1983
dc.identifier.citation1. Abe, T.M. Morita, K. Kawai, S. Misawa, H. Kanai, G. Hirose and H. Fujita (1975). Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome. Humangenetik, 30, 207-215.
2. Andrews, T. and D.F. Roberts (1982). Chromosome analyses in couples with repeated pregnancy loss. J. Biosoc. Sci., 14, 33-52.
3. Archidiacono, N., D. Tecilazich, G. Tonni, M. Rocchi and G. Filippi (1979). Trisomy 20q from maternal t(3;20) translocation. J. Med. Cenet., 16, 229-232.
4. Bass. H. N. and R.S. Sparkes (1979). Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (l4qter→cen→21qter). J. Med. Genet., 16,215-218.
5. Berg, W. R. (1971). Autosomal abnormalities Mongolism (Down’s syndrome). In Endocrine and Genetic Diseases of Childhood. (Gardner, L. I. Ed.). State University of New York, Upstate Medical Center, Syracuse, New York.
6. Buchinger, G., A. Wettstein and H. Metze (1981). Familial chromosome translocation t(3;18) (p21;p11). J. Med. Genet., 18, 119-123.
7. Carr, D. H. (1971). Genetic basis of abortion. Ann. Rev. Genet., 5, 65-80.
8. Carr, D. H. and M.M. Gedean(1976). Four familial translocations ascertained through spontaneous abortions. Hum. Genet., 31, 93-96.
9. Chiyo, H-A., Y. Kuroki, I. Matsui, N. Niitsu and Y. Nakagome (1976). A case of partial trisomy 3q. J. Med. Cenet., 13,525-528.
10. Creasy, M.R., .J.A. Crolla and E.D. Alberman (1976). A cytogenetic study of human spontaneous abortions using banding techniques. Hum. Genet., 31, 177-196.
11. Daniel, A. and P.R.L.C. Lam-Po-Tang (1976). Structure and inheritance of some heterozygous Robertsonian translocations in man. J. Med. Genet., 13, 381-388.
12. De La Chapelle, A., .J. Schr?der and J. Kokkonen (1973). Cytogenetics of recurrent abortion or unsuccessful pregnancy. Int. J. Fertil., 18, 215-219.
13. Dhadial, R.K. and A.M. Machin (1970). Chromosomal anomalies in spontaneously aborted human fetuses. The Lancet, 4, 20-21.
14, Doong, S.J. (1982). Personal communication.
15. Fineman, R,M., F. Hecht, R.C. Ablow, R.O. Howard and W.R. Breg (1978). Chromosome 3 duplication q/deletion p syndrome. Pediatrics, 61(4), 611-618.
16. Friedrich, U., J. Nielsen and J. Sehested (1972). A family with 15-22 translocation. Hereditas, 72, 172-174.
17. Geisler, M. and J. Kleinebrecht (1978). Cytogenetic and Histologic analysis of spontaneous abortions. Hum. Genet., 45, 239-251.
18. Habedank, M. and G. Kampe (1975). Familial translocation t(3p-;21q+) associated with both Down’s and Sturge-Weber’s syndrome in unbalanced state. Humangenetik, 29, 207-216.
19. Hamerton, J.L., M. Ray., J. Abbott, C. Williamson(1972).. Chromosome studies in a neonatal population. Canad. Med. Asso. J., 106, 776-779.
20. Hansteen, I-L., K. Vavslot, J. Steen-Johnsen and S. Langard (1982). Cytogenetic screening of a new-born population. Clinic. Genet., 21, 309-314.
21. Hassold, T.J. and A. Matsuyama (1979). Origin of trisomies in human spontaneous abortions. Hum. Genet., 46, 285-294.
22. Hook, E.B. (1981). Rates of chromosome abnormalities at different maternal ages, Obstet. Gynecol., 58(3), 282-285.
23. Hsu, T.G., S. Pathak and T.R. Chen (1975). The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations. Cytogenet. Cell. Genet., 15, 41-49.
24. Jacobs, P.A., K.E. Buckton, C. Cunningham and M. Newton (1974). An analysis of the break points of structural rearrangements in man. J. Med. Genet., 11, 50-64.
25. Kajii, T. and A. Ferrier (1978). Cytogenetics of aborters and abortuses. Amer. J. Obstet. Gynecol., 131(1), 33-38.
26. Kajii, T., A. Ferrier, N. Niikawa, H. Takahara, K. Ohama and S. Avirachan (1980). Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum. Genet., 55, 87-98.
27. Kajii, T., K. Ohama, N. Niikawa, A. Ferrier and S. Avirachan (1973). Banding analysis of abnormal karyotypes in spontaneous abortion. Am. J. Hum. Genet., 25, 539-547.
28. Kardon, N.B., J.G. Davis, A.L. Berger and B. Broekman (1980). Incidence of chromosomal rearrangements in couples with reproductive loss. Hum. Genet., 53, 161-164.
29. Khudr, G. (1974). Cytogenetics of habitual abortion. A review. Obstet. Gynecol. Surv., 29(5), 299-310.
30. K?rner,H., H. Agricola and H. Bayer (1975). Translocation t(7p+;13q-) associated with recurrent abortion. Humangenetik, 28, 83-86.
31. Kuliev, A.M., K. N. Grinberg, V.I. Kukharenko, V. P. Kulazenko and E. A. Bogomazov (1977). Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level. Hum. Genet., 38, 137-145.
32. Lin, C.C., M. M. Gedeon, P. Griffith, W. K. Smink, D. R. Newton, L. Wilkie and L. M. Sewell (1976). Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique. Hum. Genet., 31, 315-328.
33. Lubs, H.A. and F. H. Ruddle (1970). Chromosomal abnormalities in the human population : estimation of rates based on New Haven newborn study. Science, 169, 495-497.
34. Lurie, I. W. (1979). Down’s syndrome with 45 chromosomes. Hum. Genet., 46, 121-123.
35. Lyberatou-Moraitou E., P. Grigori-Kostaraki, Z. Retzepopoulou and Z. Kosmaidou-Aravidou (1983). Cytogenetics of recurrent abortions . Clinic. Genet., 23, 294-297.
36. Marchi, A., S. Siena, F. Pasquali and F. Sacchi (1982). Monosomy 7 syndrome. New Eng. J. Med., 306(25), 2552.
37. Mattei, M.-G., J.-F. Mattei, S. Ayme and F. Girand (1979). Dicentric Robertsomian translocations in man. Hum. Genet., 50, 33-38.
38. Mennuti, M. T., F. S. Jinfeleski, R. H. Schwarz and W. J. Mellman (1978). An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet. Gynecol., 52, 308-313.
39. Michels, V. V., C. Medrana. V. L. Venne and V. M. Riccardi (1982). Chromosome translocations in couples with multiple spontaneous abortions. Am. J. Hum. Genet., 34, 507-513.
40. Mikkelsen, M., A. Hansson, P. Jacobsen and N. Hobolth (1975). Translocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis. Humangenetik, 27, 303-307.
41. Ming, P-M. L., R. Parker and D. M. Goodner (1980). Familial occurrence of chromosome 7/12 translocation. Clinic. Genet., 18, 445-449.
42. Moorhead, P.S., P. C. Nowell, W. J. Mellman. D. M. Battips and D. A. Hungerford (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res., 20, 613-616.
43. Mutchinick, O., L. Ruz and R. Jim?nez (1978). Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22) (q22;q11). Hum. Genet., 45, 89-95.
44. Neu, R. L., K. Entes and R. M. Bannerman (1979). Chromosome analysis in cases with repeated spontaneous abortions. Obstet. Gynecol., 53(3), 373-375.
45. Neu, R. L., F. A. Valentine and L. I. Cardner (1975). Segregation of a t(14q 22q) chromosome in a large kindred. Clinic. Genet., 8,30-36.
46. Nielsen, J. and I. Sillesen (1975). Incidence of chromosome aberrations among 11148 newborn children. Humangenetik, 30, 1-12.
47. Otto, P. G., S. Toledo, A. Richieri-Costa, P. A. Otto, A. M. Vianna-Morgante and S. Kasahara (1978). Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum. Genet., 41, 243-250.
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49. Sichong, Z., T-H. Bui, I. Castro, L. Iselius, S. Hakansson and K.-M. Lundmark (1981). A girl with. an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique. Hum. Genet., 59, 178-181.
50. Simpson, J. and H. Zellweger (1977). Partial trisomy 14q- and parental translocation of No. 14 chromosome. J. Med. Genet., 14, 124-127.
51. Simpson, J. L. (1981). Antenatal diagnosis of cytogenetic abnormalities. In Clinical Obstetrics and Gynecology. 24(4), 1023-1039. (Simpson, J. L. and J. D. Thompson Eds.)
52. Smith, A., C.D. Dulk and C. Elliott (1980). A severely retarded 18-year-old boy with tertiary partial trisomy 14. J. Med. Cenet., 17, 230-232.
53. Smith, A. and C. Elliott (1980). Occurrence of sex chromosome mosaicism and translocation Down’s syndrome in the same family. Clinic. Cenet., 17, 341-348.
54. Stenchever, M.A., J. A. Jarvis and M. N. Maclntyre (1968). Cytogenetics of habitual abortion. Obstet. Gynecol., 32(4), 548-555.
55. Stenchever, M. A., K. J. Parks, T. L. Daines, M. A. Allen and M. R. Stenchever (1977). Cytogenetics of habitual abortion and other reproductive wastage. Amer. J. Obstet. Gynecol., 127(2), 143-150.
56. Stoll, C. (1980). Nonrandom distribution of exchange points in patients with reciprocal translocations. Hum. Genet., 56, 89-93.
57. Stoll, C. (1981). Cytogenetic findings in 122 couples with recurrent abortions. Hum. Genet., 57, 101-103.
58. Subrt, I. (1980). Reciprocal translocation with special.reference to reproductive failure. Hum. Genet., 55, 303-307.
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dc.identifier.urihttp://tdr.lib.ntu.edu.tw/jspui/handle/123456789/75494-
dc.description.abstract以吉氏紋帶染色法及固有異染色質染色法檢查重複性流產夫婦的核型及異常染色體的遺傳。
在35位重複性流產夫婦檢樣中發現兩例平衡的染色體相互轉位核型:(a) 46,XY,t(3;16)(3qter→3p2l::l6p12 →l6pter;l6qter →16p12::3p21→3pter);及 (b) 46,XY,t(7;18)(7qter →7p14::18q23→l8qter;l8pter →18q23::7p14 →7pter)。 重複性流產夫婦中核型異常的頻率為 5 . 7 %。配偶之一具有異常核型時,女性平衡轉位攜帶者的家庭較男性攜帶者的家庭有較高的懷孕成功率。
另一對無流產記錄的夫婦,其妻及女胎具平衡羅氏轉位核型 45 , XX, t (14 ; 21) (14qter→cen →21qter ) 。具羅氏轉位 t ( 14q2lq )的家庭中,平衡轉位核型的子女多於正常核型者。
文中討論異常染色體的形成,重複性流產與核型異常,平衡轉位染色體攜帶者的性別與懷孕成功率及異常染色體的遺傳,並與相關文獻綜合比較。
zh_TW
dc.description.abstractG-banding and C-bonding techniques were employed to study the karyotype and the transmission of the aberrant chromosomes in recurrent aborters. Two cases of balanced autosomal reciprocal translocations were discovered: (a). 46,XY,t(3;16)(3qter →3p2l::l6p12 →l6pter;l6qter →16p12::3p21 →3pter) and (b). 46,XY,t(7;18)(7qter →7p14::18q23 →l8qter;l8pter →18q23::7p14 →7pter) in 35 studies. The frequency of chromosome anomalies in recurrent aborters is 5.7%. Female carriers of the aberrant chromosome revealed higher reproductive successes than male carriers. In a family with no spontaneous abortions, both the mother and the female fetus were carriers of a Robertsonian translocation chromosome, t(14q21q). Their karyotype is 45,XX,t(14;21)(l4qter-cen-2lqter). There were more balanced carriers than normal ones in the family with Rob.t(14q21q). The formation of aberrant chromosomes and chromosome anomaly in recurrent aborters were discussed. The reproductive performance and inheritance of the aberrant chromosomes in male and female carriers were analyzed and comparisons were made with others.en
dc.description.provenanceMade available in DSpace on 2021-07-01T08:13:30Z (GMT). No. of bitstreams: 0
Previous issue date: 1983
en
dc.description.tableofcontents(Ⅰ) 前言…………………………………………………………………………………………………1
(Ⅱ) 材料與方法
(一) 淋巴球培養……………………………………………………………………………………3
(二) 有絲分裂細胞風乾片製備……………………………………………………………………4
(三) 染色體染色……………………………………………………………………………………5
(四) 染色體的觀察及記錄…………………………………………………………………………6
(Ⅲ) 結果
(一) 受檢人一般特徵………………………………………………………………………………7
(二) 受檢人的核型…………………………………………………………………………………7
(三) 轉位染色體的遺傳及其攜帶者的懷孕成功率………………………………………………10
(Ⅳ) 討論
(一) 異常染色體的形成……………………………………………………………………………13
(二) 重複性流產與核型異常………………………………………………………………………15
(三) 平衡轉位者的懷孕成功率……………………………………………………………………17
(四) 轉位染色體的遺傳……………………………………………………………………………20
(Ⅴ) 英文摘要………………………………………………………………………………………………24
(Ⅵ) 參考文獻………………………………………………………………………………………………25
dc.language.isozh-TW
dc.title重複流產夫婦的異常染色體和其遺傳zh_TW
dc.titleAberrant Chromosomes and Their Transmissions in Couples with Recurrent Abortionsen
dc.date.schoolyear71-2
dc.description.degree碩士
dc.relation.page55
dc.rights.note未授權
dc.contributor.author-dept生命科學院zh_TW
dc.contributor.author-dept動物學研究所zh_TW
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