由易位或等臂染色体形成引起的18三体综合征。病例报告并附文献综述。 - Suppr

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超能文献

Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.

作者信息

Müller H, Bühler E M, Signer E, Egli F, Stalder G R

出版信息

J Med Genet. 1972 Dec;9(4):462-7. doi: 10.1136/jmg.9.4.462.

DOI:10.1136/jmg.9.4.462

PMID:4646556

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469081/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8908/1469081/ebf8e8355694/jmedgene00363-0080-a.jpg

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Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.由易位或等臂染色体形成引起的18三体综合征。病例报告并附文献综述。

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Clin Genet. 1974;5(5):420-7. doi: 10.1111/j.1399-0004.1974.tb01715.x.

The clinical and genetic picture of trisomy 18 (Edwards' syndrome).18三体综合征（爱德华兹综合征）的临床及遗传学表现。

Z Kinderheilkd. 1973 Dec 12;116(1):13-22. doi: 10.1007/BF00438825.

[Edwards' syndrome (trisomy 18)].[爱德华兹综合征（18三体综合征）]

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Ann Genet. 1973 Mar;16(1):61-6.

[Phenotype and karyologic aspects of Edwards' syndrome (case report)].

Clin Pediatr (Bologna). 1969 Mar;51(3):117-30.

[Ocular manifestations of trisomy 18].[18三体综合征的眼部表现]

Arch Ophtalmol Rev Gen Ophtalmol. 1972 Jun-Jul;32(6):457-76.

引用本文的文献

Centric fission--simple and complex mechanisms.中心裂变——简单和复杂机制

Chromosome Res. 2004;12(6):627-40. doi: 10.1023/B:CHRO.0000036594.38997.59.

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q).

Am J Hum Genet. 1996 Nov;59(5):1114-8.

Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.通过分子技术对18号染色体短臂缺失和等臂染色体形成进行产前检测。

J Med Genet. 1995 Dec;32(12):991-3. doi: 10.1136/jmg.32.12.991.

Morphology alone does not make an isochromosome.仅形态学特征不足以判定等臂染色体。

Hum Genet. 1986 Mar;72(3):253-5. doi: 10.1007/BF00291889.

Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.18号染色体短臂单体和18号染色体长臂三体嵌合体的产前检测及意外的胎儿表型

J Med Genet. 1986 Jun;23(3):258-9. doi: 10.1136/jmg.23.3.258.

Trisomy 18 with karyotype 47,XX,-18,+i psu dic(18p).核型为47,XX,-18,+i psu dic(18p)的18三体综合征

J Med Genet. 1992 Jul;29(7):513.

47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?47，XX，+der(18)，t(9;18)(p24;q21) 母源：一种独特的18q部分三体综合征？

J Med Genet. 1978 Oct;15(5):391-5. doi: 10.1136/jmg.15.5.391.

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.具有异常核型的18三体综合征：可能为双等臂染色体。

J Med Genet. 1978 Feb;15(1):73-6. doi: 10.1136/jmg.15.1.73.

本文引用的文献

A Correlation of Ring-Shaped Chromosomes with Variegation in Zea Mays.玉米中环形染色体与斑驳现象的相关性

Proc Natl Acad Sci U S A. 1932 Dec;18(12):677-81. doi: 10.1073/pnas.18.12.677.

PHOCOMELIA AND TRISOMY E.

Acta Genet Med Gemellol (Roma). 1965 Apr;14:164-73. doi: 10.1017/s1120962300015274.

CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). 3. FREQUENCY OF INTERCHANGE OF TRISOMICS AND MUTATION RATE OF CHROMOSOME INTERCHANGES.

Cytogenetics. 1965;4:193-206. doi: 10.1159/000129855.

A DEFECTIVE EXTRA CHROMOSOME ASSOCIATED WITH CLINICAL 17-18 TRISOMY SYNDROME.与临床17 - 18三体综合征相关的一条缺陷额外染色体。

Pediatrics. 1965 Jul;36:135-8.

[THE TRISOMY-18 SYNDROME. REPORT ON 3 CASES].

Schweiz Med Wochenschr. 1965 Apr 17;95:509-16.

[TRISOMY 18. 5 NEW CASES. REVIEW OF THE LITERATURE].[18三体综合征。5例新病例。文献综述]

Ann Pediatr (Paris). 1965 Jan 2;12:24-35.

TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.

Pediatrics. 1964 Oct;34:533-41.

THE PATHOLOGY OF 18 TRISOMY.

J Pediatr. 1964 Jul;65:92-101. doi: 10.1016/s0022-3476(64)80557-6.

TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE.18三体综合征合并桡骨缺如、手部内翻畸形及拇指发育不全：一例报告

J Pediatr. 1964 Jul;65:130-3. doi: 10.1016/s0022-3476(64)80595-3.

[MALFORMATIONS AND TRISOMY 17-18 IN A NEWBORN INFANT].[一名新生儿的畸形与17 - 18三体综合征]

Gynaecologia. 1964;157:329-42.

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