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Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

作者信息

Taylor A I

出版信息

J Med Genet. 1968 Sep;5(3):227-52. doi: 10.1136/jmg.5.3.227.

DOI:10.1136/jmg.5.3.227
PMID:5708029
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468648/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/7c46116ef5cc/jmedgene00378-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/bfd13b9b5f88/jmedgene00378-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/1e4eed5fd720/jmedgene00378-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/861302eff8dc/jmedgene00378-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/7c46116ef5cc/jmedgene00378-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/bfd13b9b5f88/jmedgene00378-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/1e4eed5fd720/jmedgene00378-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/861302eff8dc/jmedgene00378-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c091/1468648/7c46116ef5cc/jmedgene00378-0089-a.jpg

相似文献

1
Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.常染色体三体综合征:27例爱德华兹综合征和27例帕陶氏综合征的详细研究。
J Med Genet. 1968 Sep;5(3):227-52. doi: 10.1136/jmg.5.3.227.
2
[Malformation syndromes caused by autosomal trisomies: Patau's syndrome and Edwards' syndrome].
Z Allgemeinmed. 1970 Dec 10;46(34):1679-93.
3
[Soluble brain proteins in autosomal trisomy syndromes].
Zh Nevropatol Psikhiatr Im S S Korsakova. 1981;81(10):1498-1502.
4
[Clinical diagnosis of Patau's syndrome].
Vopr Okhr Materin Det. 1973 Jun;18(6):83-8.
5
[Trisomy 13. D 1 trisomy, Patau's syndrome, Bartholin-Patau's syndrome].[13三体综合征。D1三体、帕陶综合征、巴托林-帕陶综合征]
Ugeskr Laeger. 1972 Dec 4;134(49):2598.
6
Antenatal diagnosis of Patau's syndrome (trisomy 13) including a detailed pathological study of the fetus.帕陶氏综合征(13三体综合征)的产前诊断,包括对胎儿进行详细的病理研究。
J Med Genet. 1973 Dec;10(4):367-70. doi: 10.1136/jmg.10.4.367.
7
Clinical experience with trisomies 18 and 13.18三体和13三体的临床经验。
J Med Genet. 1978 Feb;15(1):48-60. doi: 10.1136/jmg.15.1.48.
8
[Patau's syndrome].[帕陶氏综合征]
Fracastoro. 1969 Sep-Oct;62(5):539-41.
9
The malformations of the urinary system in autosomal disorders.常染色体疾病中的泌尿系统畸形。
Virchows Arch A Pathol Anat Histol. 1975 Oct 20;368(2):167-78. doi: 10.1007/BF00432416.
10
[Morphological manifestations and principles of the differential diagnosis of chromosome diseases caused by changes in the autosome system].[常染色体系统改变所致染色体疾病的形态学表现及鉴别诊断原则]
Arkh Patol. 1975;37(10):3-11.

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1
Chromosomal Instability, Selection and Competition: Factors That Shape the Level of Karyotype Intra-Tumor Heterogeneity.染色体不稳定性、选择与竞争:塑造肿瘤内核型异质性水平的因素
Cancers (Basel). 2022 Oct 12;14(20):4986. doi: 10.3390/cancers14204986.
2
Strawberry skull in Edwards syndrome.爱德华兹综合征中的草莓头畸形。
BJR Case Rep. 2017 Jun 10;3(4):20170045. doi: 10.1259/bjrcr.20170045. eCollection 2017.
3
Free-living human cells reconfigure their chromosomes in the evolution back to uni-cellularity.自由生活的人类细胞在向单细胞进化的过程中重新配置它们的染色体。

本文引用的文献

1
Multiple congenital anomalies in a Negro infant with 13-15 trisomy.
South Med J. 1962 Apr;55:385-9. doi: 10.1097/00007611-196204000-00011.
2
Trisomy 13-15: a clinical syndrome.13 - 15三体综合征:一种临床综合征。
Lancet. 1961 Nov 4;2(7210):1001-2. doi: 10.1016/s0140-6736(61)90963-1.
3
Multiple congenital abnormalities associated with chromosomal trisomy.与染色体三体相关的多种先天性异常。
N Engl J Med. 1961 Aug 17;265:314-8. doi: 10.1056/NEJM196108172650703.
Elife. 2017 Dec 18;6:e28070. doi: 10.7554/eLife.28070.
4
Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.足部轴前多指畸形:来自中非的一例13三体综合征的可变表现
Case Rep Genet. 2014;2014:365031. doi: 10.1155/2014/365031. Epub 2014 Sep 1.
5
Gestational, perinatal and family findings of patients with Patau syndrome.帕陶综合征患者的妊娠、围产期及家族情况
Rev Paul Pediatr. 2013 Dec;31(4):459-65. doi: 10.1590/S0103-05822013000400007.
6
Craniofacial abnormalities among patients with Edwards Syndrome.爱德华兹综合征患者的颅面异常。
Rev Paul Pediatr. 2013 Sep;31(3):293-8. doi: 10.1590/S0103-05822013000300004.
7
Longevity and Patau syndrome: what determines survival?长寿与帕陶综合征:是什么决定了生存?
BMJ Case Rep. 2012 Dec 6;2012:bcr0620114381. doi: 10.1136/bcr-06-2011-4381.
8
Infantile hypertrophic pyloric stenosis--genetics and syndromes.婴儿肥厚性幽门狭窄——遗传学和综合征。
Nat Rev Gastroenterol Hepatol. 2012 Nov;9(11):646-60. doi: 10.1038/nrgastro.2012.133. Epub 2012 Jul 10.
9
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.人类无脑畸形中神经内分泌 GnRH 细胞的迁移缺陷。
J Clin Invest. 2010 Oct;120(10):3668-72. doi: 10.1172/JCI43699.
10
Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: a case report.一名患有18三体综合征的6个月大女孩的多灶性肝母细胞瘤:病例报告
J Med Case Rep. 2009 Jun 23;3:8319. doi: 10.4076/1752-1947-3-8319.
4
Multiple congenital anomaly caused by an extra autosome.由额外常染色体引起的多重先天性异常。
Lancet. 1960 Apr 9;1(7128):790-3. doi: 10.1016/s0140-6736(60)90676-0.
5
A ONE-YEAR CYTOGENETIC SURVEY IN A CHILDREN'S HOSPITAL.一家儿童医院的为期一年的细胞遗传学调查。
Clin Proc Child Hosp Dist Columbia. 1965 Sep;21:217-41.
6
TRISOMY-18 SYNDROME IN A PATIENT WITH NORMAL KARYOTYPE, CLINICAL AND DERMATOGLYPHIC FINDINGS.核型正常患者的18三体综合征:临床及皮纹学表现
JAMA. 1965 Sep 6;193:840-3. doi: 10.1001/jama.1965.03090100086037.
7
[THE TRISOMY-18 SYNDROME. REPORT ON 3 CASES].
Schweiz Med Wochenschr. 1965 Apr 17;95:509-16.
8
CHROMOSOMAL ABERRATIONS IN SPONTANEOUS HUMAN ABORTIONS.自然流产中的染色体畸变
N Engl J Med. 1965 Apr 22;272:811-8. doi: 10.1056/NEJM196504222721601.
9
[CLINICAL DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS OF TRISOMY 17-18].[17-18三体综合征的临床诊断与鉴别诊断]
Ann Paediatr. 1964;203:428-41.
10
[TRISOMY 13 AND ITS OPHTHALMOLOGIC EXPRESSION].[13三体综合征及其眼部表现]
Arch Ophtalmol Rev Gen Ophtalmol. 1964 Oct-Nov;24:581-601.