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家族性19号染色体臂间倒位

Familial pericentric inversion 19.

作者信息

Jordan D K, Taysi K, Blackwell N L

出版信息

J Med Genet. 1980 Jun;17(3):222-5. doi: 10.1136/jmg.17.3.222.

DOI:10.1136/jmg.17.3.222
PMID:7401134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048551/
Abstract

Several members in two families were found to have a pericentric inversion of chromosome 19. A review of four previous cases, together with those reported here, suggests that inversion of chromosome 19 is not related to the phenotypic features of the probands. Furthermore, there has been no report of an affected subject resulting from a duplication deficiency product of inverted chromosome 19 among the offspring of inversion heterozygotes. The suggested association of aneuploidy in the inversion carriers is also discussed.

摘要

在两个家族中发现有几名成员存在19号染色体的臂间倒位。对之前4例病例以及本文所报告病例的回顾表明,19号染色体倒位与先证者的表型特征无关。此外,在倒位杂合子的后代中,尚无因19号倒位染色体的重复缺失产物导致受累个体的报告。文中还讨论了倒位携带者中出现非整倍体的可能关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/404d14b6cf21/jmedgene00125-0063-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/1d4138fcbabd/jmedgene00125-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/86168fc171fc/jmedgene00125-0063-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/404d14b6cf21/jmedgene00125-0063-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/1d4138fcbabd/jmedgene00125-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/86168fc171fc/jmedgene00125-0063-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90a5/1048551/404d14b6cf21/jmedgene00125-0063-c.jpg

相似文献

1
Familial pericentric inversion 19.家族性19号染色体臂间倒位
J Med Genet. 1980 Jun;17(3):222-5. doi: 10.1136/jmg.17.3.222.
2
A familial pericentric inversion of chromosome 8 analysed with a high resolution chromosome banding technique.采用高分辨率染色体显带技术分析的8号染色体家族性臂间倒位。
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3
The prenatal detection of a familial pericentric inversion of chromosome 19.19号染色体家族性臂间倒位的产前检测
Prenat Diagn. 1986 Jan-Feb;6(1):79-82. doi: 10.1002/pd.1970060112.
4
Familial pericentric inversion of chromosome 12.家族性12号染色体臂间倒位
Hum Genet. 1986 Apr;72(4):320-2. doi: 10.1007/BF00290957.
5
Familial pericentric inversion of the Y chromosome.
Ann Genet. 1984;27(1):60-1.
6
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.一名母亲发生臂间倒位导致的两名同胞出现19号染色体短臂单体和19号染色体长臂13区至末端三体:临床数据与分子特征分析
Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12.
7
Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling.19号染色体臂间倒位:产前诊断与遗传咨询
Prenat Diagn. 1986 Jan-Feb;6(1):75-8. doi: 10.1002/pd.1970060111.
8
Familial pericentric inversion (10) and its effect on two offspring.家族性臂间倒位(10)及其对两个后代的影响。
J Med Genet. 1984 Aug;21(4):317-9. doi: 10.1136/jmg.21.4.317.
9
[Familial pericentric inversion of the X chromosome [inv(X)(p11q28)]].[X染色体家族性臂间倒位[inv(X)(p11q28)]]
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10
Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22).对一名8号染色体臂间倒位inv(8)(p23q22)杂合子男性的精子染色体组成进行分析。
Cytogenet Cell Genet. 1993;62(4):199-202. doi: 10.1159/000133475.

引用本文的文献

1
Familial paracentric inversion of chromosome 15 (q15q24).15号染色体臂间倒位(q15q24)家族性
J Med Genet. 1984 Dec;21(6):451-3. doi: 10.1136/jmg.21.6.451.
2
Pericentric inversion of chromosome 19 in three families.三个家族中19号染色体的臂间倒位
Hum Genet. 1988 Oct;80(2):203-4. doi: 10.1007/BF00702874.

本文引用的文献

1
[Turner's syndrome and a probable pericentric inversion of chromosome 2(45, X, 2(p+q-))].
Ann Genet. 1968 Sep;11(3):181-3.
2
[5 cases of structural anomalies of the X chromosome and a case of 45,X,2(p+q-)].
Lille Med. 1971 Aug-Sep;16(7):957-68.
3
An analysis of the break points of structural rearrangements in man.人类结构重排断点的分析。
J Med Genet. 1974 Mar;11(1):50-64. doi: 10.1136/jmg.11.1.50.
4
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
对14,069名新生儿的细胞遗传学调查。I. 染色体异常的发生率。
Clin Genet. 1975 Oct;8(4):223-43. doi: 10.1111/j.1399-0004.1975.tb01498.x.
5
Variation in the centromeric banding of chromosome 19.19号染色体着丝粒带的变异
Clin Genet. 1975 Sep;8(3):218-22. doi: 10.1111/j.1399-0004.1975.tb01497.x.
6
[Pericentric inversion of chromosome 2 (p11 q13) in unrelated families (author's transl)].无关家族中2号染色体(p11 q13)的臂间倒位(作者译)
Humangenetik. 1975 Jun 19;28(2):121-8. doi: 10.1007/BF00735744.
7
Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.19号染色体家族性臂间倒位,inv(19)(p13q13)及关于臂间倒位携带者遗传咨询的说明
Clin Genet. 1976 Jul;10(1):54-9. doi: 10.1111/j.1399-0004.1976.tb00009.x.
8
Inversion 19 and isochromosome short arm 17 or 18.19号染色体倒位以及17号或18号染色体短臂等臂染色体
Hum Genet. 1977 Jul 26;37(3):347-50. doi: 10.1007/BF00393618.
9
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).14号染色体臂间倒位与14q部分重复(14q31至14q末端)的风险
Am J Med Genet. 1977;1(2):217-28. doi: 10.1002/ajmg.1320010208.