9号染色体部分四体性及一名多发畸形儿童的嵌合体（作者译） - Suppr

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[Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].

作者信息

Ghymers D, Hermann B, Distèche C, Frederic J

出版信息

Humangenetik. 1973 Dec 10;20(3):273-82. doi: 10.1007/BF00385740.

DOI:10.1007/BF00385740

PMID:4772080

Abstract

摘要

相似文献

[Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].9号染色体部分四体性及一名多发畸形儿童的嵌合体（作者译）

Humangenetik. 1973 Dec 10;20(3):273-82. doi: 10.1007/BF00385740.

Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.简要临床报告：非嵌合型部分9号染色体四体和部分三体

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Tetrasomy 9p: confirmation by enzyme analysis.9号染色体短臂四体：通过酶分析证实

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[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].[46,XX/46,XX,del(10)(p13)/47,XX,+r/47,XX,del(10)(p13),+r嵌合体及部分10号染色体短臂三体表型（作者译）]

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Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.帕利斯特-基利安综合征：产前绒毛膜绒毛、产后淋巴细胞及生长缓慢的表皮细胞的核型正常，但皮肤成纤维细胞存在12号染色体短臂的嵌合性四体。

J Med Genet. 1995 Jan;32(1):68-71. doi: 10.1136/jmg.32.1.68.

Ring chromosome 10 associated with multiple congenital malformations.与多种先天性畸形相关的环状染色体10

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[Trisomy of chromosome No. 10 in mosaic (author's transl)].嵌合型10号染色体三体（作者译）

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Trisomy 9 mosaicism in a newborn infant with multiple malformations.一名患有多种畸形的新生儿的9号染色体三体嵌合体。

J Pediatr. 1974 Jul;85(1):95-7. doi: 10.1016/s0022-3476(74)80297-0.

Tissue limited mosaicism in a patient with tetrasomy 9p.9号染色体短臂四体患者的组织局限性嵌合体。

Am J Med Genet. 1990 Nov;37(3):388-91. doi: 10.1002/ajmg.1320370319.

Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review.伴有正常血液染色体的22号染色体三体嵌合体。病例报告并文献复习。

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引用本文的文献

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features.通过拷贝数变异测序（CNV-seq）检测到9号染色体短臂镶嵌性四体，但在一例无畸形特征的产前病例中传统核型分析未检测到。

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First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.首例母体外周血无创产前检测偶然发现的 9p 三体嵌合体病例报告。

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A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.9p 三体嵌合体程度高，但除了染色体平衡精子的中度少精症外无其他临床表现：一例报告。

J Assist Reprod Genet. 2020 Mar;37(3):573-577. doi: 10.1007/s10815-020-01690-0. Epub 2020 Jan 24.

A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p.产前诊断9号染色体短臂四体的系统临床综述

Balkan J Med Genet. 2019 Aug 28;22(1):11-20. doi: 10.2478/bjmg-2019-0012. eCollection 2019 Jun.

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.9p24.3q21.11 号染色体部分四体嵌合体导致多发先天畸形：病例报告

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Small supernumerary marker chromosomes and their correlation with specific syndromes.小额外标记染色体及其与特定综合征的相关性。

Adv Biomed Res. 2015 Jul 27;4:140. doi: 10.4103/2277-9175.161542. eCollection 2015.

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.在一例通过胞浆内单精子注射受孕的严重多发畸形胎儿中发现的菱形脑联胎，该胎儿患有非嵌合型9号染色体短臂四体综合征。

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Tetrasomy 9p: confirmation by enzyme analysis.9号染色体短臂四体：通过酶分析证实

J Med Genet. 1980 Jun;17(3):227-30. doi: 10.1136/jmg.17.3.227.

Mosaic tetrasomy 21 in severe mental handicap.严重智力障碍中的21号染色体镶嵌性四体性

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Duplication of the short arm of chromosome 9. Analysis of five cases.9号染色体短臂重复。5例病例分析。

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本文引用的文献

The sites and relative frequencies of secondary constrictions in human somatic chromosomes.人类体细胞染色体中次缢痕的位置及相对频率。

Cytogenetics. 1962;1:325-43. doi: 10.1159/000129743.

Chromosome preparations of leukocytes cultured from human peripheral blood.从人外周血培养的白细胞的染色体标本制备。

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

High frequency of a specific chromosome abnormality in leukocytes of a normal female.一名正常女性白细胞中特定染色体异常的高频率。

Cytogenetics. 1969;8(1):1-8. doi: 10.1159/000130017.

Pericentric inversion of a group C autosome: a study of three families.C组常染色体的臂间倒位：三个家族的研究

Ann Hum Genet. 1968 Jan;31(3):219-30. doi: 10.1111/j.1469-1809.1968.tb00552.x.

Chemical differentiation along metaphase chromosomes.沿中期染色体的化学分化。

Exp Cell Res. 1968 Jan;49(1):219-22. doi: 10.1016/0014-4827(68)90538-7.

Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.推定9号染色体短臂三体性，非遗传性易位所致。

Humangenetik. 1971;12(3):175-81. doi: 10.1007/BF00702772.

[A case of break of C chromosome].[一例C染色体断裂病例]

Ann Genet. 1971 Sep;14(3):235-9.

[Cp trisomy: a new syndrome].[18号染色体三体：一种新综合征]

Ann Genet. 1971 Sep;14(3):177-86.

[Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+].[对可能为8:46,XY-47,XY,?8+的嵌合三体C进行荧光研究]

Ann Genet. 1971 Mar;14(1):69-72.

[4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].4例9号染色体短臂三体。一种新的病态实体的个体化研究

Ann Genet. 1970 Dec;13(4):217-32.

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