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自然流产中的双三体现象。

Double trisomy in spontaneous abortions.

作者信息

Reddy K S

机构信息

Cytogenetics Laboratory, Quest Diagnostics, San Juan Capistrano, CA 92690-6130, USA.

出版信息

Hum Genet. 1997 Dec;101(3):339-45. doi: 10.1007/s004390050638.

Abstract

Cytogenetic data on products of conception from spontaneous abortions studied over a 10-year period have been reviewed for double trisomies. A total of 3034 spontaneous abortions were karyotyped between 1986 and 1997. Twenty-two cases with double trisomy, one case with triple trisomy, and a case with a trisomy and monosomy were found. The tissues studied were mostly sac, villi, or placenta. The gestational age ranged from 6 to 11 weeks and the mean age was 8.2 +/- 1.7 (SD) weeks. The mean maternal age in years was 35.9 +/- 5.3. Of the twenty-two cases, four were mosaics. All but two of the cases involved autosomal aneuploidies. The double trisomies included chromosomes 2, 4, 5, 7, 8, 12, 13, 14, 15, 16, 17, 18, 20, 21, and 22. The chromosomes that were trisomic in more than one double trisomy case were numbers 16 (8 cases), 8 (5 cases), 15 (4 cases), 2, 13, and 21 (3 cases each), and 5, 7, 14, 18, 20, 22, and X (2 cases). The triple trisomy involved chromosomes 18, 21, and X. The monosomy and trisomy case was a mosaic, with a monosomy 21 in all cells and some cells also with a trisomy 5. The double trisomies cited for the first time in this study were 4/13, 5/16, 8/14, 8/15, 14/21, 15/20, and 7/12. The pooled mean maternal age for double trisomy cases (34.1 +/- 5.7 years) was higher than that for single trisomy cases (31 +/- 6.1 years). The difference was statistically significant at P = < 0.001. The pooled mean gestational age of spontaneous abortions was lower for double trisomy (8.7 +/- 2.2 weeks) than for reported single trisomy cases (10.1 +/- 2.9 weeks). This difference is also statistically significant at P = < 0.001. The sex ratio among double trisomies was 15 females to 13 males. This difference was not statistically significant from the expected 1:1.

摘要

对10年间研究的自然流产妊娠产物的细胞遗传学数据进行了回顾,以查找双三体病例。1986年至1997年间,共对3034例自然流产进行了核型分析。发现22例双三体、1例三体和1例三体与单体病例。所研究的组织大多为囊、绒毛或胎盘。孕周为6至11周,平均年龄为8.2±1.7(标准差)周。产妇平均年龄为35.9±5.3岁。在22例病例中,4例为嵌合体。除2例病例外,所有病例均涉及常染色体非整倍体。双三体包括2号、4号、5号、7号、8号、12号、13号、14号、15号、16号、17号、18号、20号、21号和22号染色体。在不止一例双三体病例中出现三体的染色体有16号(8例)、8号(5例)、15号(4例)、2号、13号和21号(各3例),以及5号、7号、14号、18号、20号、22号和X染色体(各2例)。三体涉及18号、21号和X染色体。单体与三体病例为嵌合体,所有细胞均为21号单体,部分细胞还存在5号三体。本研究首次引用的双三体为4/13、5/16、8/14、8/15、14/21、15/20和7/12。双三体病例的产妇合并平均年龄(34.1±5.7岁)高于单三体病例(31±6.1岁)。差异在P = < 0.001时具有统计学意义。双三体自然流产的合并平均孕周(8.7±2.2周)低于报道的单三体病例(10.1±2.9周)。该差异在P = < 0.001时也具有统计学意义。双三体中的性别比为15名女性对13名男性。该差异与预期的1:1无统计学显著差异。

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