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人类自然流产细胞遗传学研究的最新进展。

Recent advances in the cytogenetic study of human spontaneous abortions.

作者信息

McConnell H D, Carr D H

出版信息

Obstet Gynecol. 1975 May;45(5):547-52.

PMID:1124170
Abstract

A cytogenetic study of 27 spontaneous abortions was carried out using the Q-banding technic. The specimens were selected for study in order to increase the likelihood of finding a chromosome anomaly. Sixteen of 27 specimens (59%) showed a chromosome abnormality. Trisomy was found in 9 of the specimens, and the chromosomes involved were Nos. 2, 8, 14, 16, and 22. There were 5 triploids and 2 tetraploids. Using marker chromosomes, it was found that the extra haploid set was paternally derived in two of the triploids which were favorable for study. The Q-banding technic provides accurate identification of the extra chromosomes in trisomy. When favorable markers are present in the parents, the source of the extra haploid set can be identified in triploid abortuses.

摘要

采用Q带技术对27例自然流产进行了细胞遗传学研究。选择这些标本进行研究是为了增加发现染色体异常的可能性。27例标本中有16例(59%)显示染色体异常。9例标本中发现三体,涉及的染色体为2号、8号、14号、16号和22号。有5个三倍体和2个四倍体。利用标记染色体发现,在两个有利于研究的三倍体中,额外的单倍体组来自父方。Q带技术可准确识别三体中的额外染色体。当父母中存在有利的标记时,可在三倍体流产儿中识别额外单倍体组的来源。

相似文献

1
Recent advances in the cytogenetic study of human spontaneous abortions.人类自然流产细胞遗传学研究的最新进展。
Obstet Gynecol. 1975 May;45(5):547-52.
2
Parental origin of triploidy and D and G trisomy in spontaneous abortions.自然流产中三倍体以及D和G三体的亲本来源
J Med Genet. 1979 Aug;16(4):285-7. doi: 10.1136/jmg.16.4.285.
3
[Chromosome aberrations in abortions].[流产中的染色体畸变]
Ann Genet. 1967 Dec;10(4):179-87.
4
Chromosomes and abortion.染色体与流产
Adv Hum Genet. 1971;2:201-57.
5
[Cytogenetic studies of spontaneous abortions in humans].[人类自然流产的细胞遗传学研究]
Zhonghua Fu Chan Ke Za Zhi. 1990 Mar;25(2):89-91, 124.
6
[Studies on phenotype, development, and viability of human spontaneous abortuses with acrocentric trisomies and polyploidies: with reference to the relationship of the viability to the origin of extrachromosomes (author's transl)].人类近端着丝粒三体和多倍体自然流产儿的表型、发育及生存力研究:关于生存力与额外染色体起源的关系(作者译)
Hokkaido Igaku Zasshi. 1979 May;54(3):235-44.
7
[The autosomal chromosome aberrations in ophthalmology].[眼科中的常染色体畸变]
J Genet Hum. 1966;15:Suppl:133-208.
8
Banding analysis of abnormal karyotypes in spontaneous abortion.自然流产中异常核型的染色体显带分析。
Am J Hum Genet. 1973 Sep;25(5):539-47.
9
Chromosome studies in selected spontaneous abortions. IV. Unusual cytogenetic disorders.部分自然流产的染色体研究。IV. 异常细胞遗传学疾病。
Teratology. 1972 Feb;5(1):49-56. doi: 10.1002/tera.1420050109.
10
[Karyological study of human spontaneous and medical abortions].[人类自然流产和人工流产的核型研究]
Tsitologiia. 1973 Jul;15(7):948-52.

引用本文的文献

1
Anatomic and chromosomal anomalies in 639 spontaneous abortuses.639例自然流产的解剖学和染色体异常情况。
Hum Genet. 1980;55(1):87-98. doi: 10.1007/BF00329132.
2
Four familial translocations ascertained through spontaneous abortions.通过自然流产确定的4种家族性易位。
Hum Genet. 1976 Jan 28;31(1):93-6. doi: 10.1007/BF00270404.
3
Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.一名活产婴儿的16号染色体短臂三体及部分和完全性16号染色体三体的综述
J Med Genet. 1978 Oct;15(5):375-81. doi: 10.1136/jmg.15.5.375.
4
Frequency of chromosomal abnormalities in miscarriages and perinatal deaths.流产和围产期死亡中染色体异常的发生率。
J Med Genet. 1977 Oct;14(5):313-5. doi: 10.1136/jmg.14.5.313.
5
Parental origin of triploidy and D and G trisomy in spontaneous abortions.自然流产中三倍体以及D和G三体的亲本来源
J Med Genet. 1979 Aug;16(4):285-7. doi: 10.1136/jmg.16.4.285.
6
[Diagnosis and treatment of early pregnancy complications (proceedings)].[早期妊娠并发症的诊断与治疗(会议论文集)]
Arch Gynakol. 1977 Jul 29;224(1-4):59-79. doi: 10.1007/BF00679438.