A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

Published:1991-01 Issue:1 Volume:87 Page:54-56
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Lorda-Sanchez Isabel,Petersen Michael B.,Binkert Franz,Maechler Marco,Schmid Werner,Adelsberger Patricia A.,Antonarakis Stylianos E.,Schinzel Albert

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF01213092.pdf

Reference19 articles.

1. Antonarakis SE, Lewis JG, Adelsberger PA, Petersen MB, Schinzel A, Binkert F, Pangalos C, Raoul O, Chakravarti A, Hafez M, Cohen MM, Roulston D, Schwartz S, Mikkelsen M, Tranebjaerg L, Greenberg F, Hoar DI, Warren AC, Metaxotou C, Bartsokas C (1991) Parental origin of the extra chromosome in trisomy 21 revisited: DNA polymorphism analysis suggests maternal origin in 95% of cases. N Engl J Med (in press)

2. Baker BS, Carpenter ATC, Esposito MS, Esposito RE, Sandler L (1976) The genetic control of meiosis. Annu Rev Genet 10:53?135

3. Burmeister M, Cox DR, Myers RM (1990) Dinucleotide repeat polymorphism located at D21S120 in 21q11.2. Nucleic Acids Res 18:49?69

4. Ford CJ, Jones KW, Miller OJ, Mittwoch U, Penrose LS, Ridler M, Shapiro A (1959) The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet I:709?710

5. Fraser N, Boyd Y, Craig I (1989) Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11. 22. Genomics 5:144?148

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients;Chromosoma;2022-10-11

2. Rapid Detection of Fetal Aneuploidies by Quantitative Fluorescent-Polymerase Chain Reaction for Prenatal Diagnosis in the Turkish Population;Balkan Journal of Medical Genetics;2012-01-01

3. Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review;Annals of Laboratory Medicine;2010-04-01

4. Familial small supernumerary marker chromosome (sSMC) (14)(:P11–q11:)In a child with translocation down syndrome;The Indian Journal of Pediatrics;2009-12

5. Prenatal Diagnosis of Double Aneuploidy, 48,XXY,+21, and Review of the Literature;Journal of Ultrasound in Medicine;2009-05

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3