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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl.

作者信息

Sánchez-Casillas Alma Laura, Rivera Horacio, Castro-Martínez Anna Gabriela, García-Ortiz José Elías, Córdova-Fletes Carlos, Mendoza-Pérez Paul

机构信息

Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., México.

Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal., México.

出版信息

Ann Lab Med. 2017 Jan;37(1):88-91. doi: 10.3343/alm.2017.37.1.88.

DOI:10.3343/alm.2017.37.1.88
PMID:27834075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5107627/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61d6/5107627/acb93f4ee3d8/alm-37-88-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61d6/5107627/aee5bff5b0ae/alm-37-88-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61d6/5107627/acb93f4ee3d8/alm-37-88-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61d6/5107627/aee5bff5b0ae/alm-37-88-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61d6/5107627/acb93f4ee3d8/alm-37-88-g002.jpg

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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl.一名墨西哥女孩出现类似圣路易斯谷综合征的新发8号染色体衍生异常并伴有8号染色体短臂2区2带重复
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Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.具有复杂染色体重排的嵌合体的分子特征:端粒捕获和新端粒形成导致染色体同时愈合的证据。
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本文引用的文献

1
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.invdupdel(8p)重排分析:临床、细胞遗传学及分子特征
Am J Med Genet A. 2015 May;167A(5):1018-25. doi: 10.1002/ajmg.a.36879. Epub 2015 Feb 25.
2
Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.在香港,全基因组阵列 CGH 评估取代了产前核型分析。
PLoS One. 2014 Feb 5;9(2):e87988. doi: 10.1371/journal.pone.0087988. eCollection 2014.
3
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
患者存在新型 rec(8)dup(8q)inv(8)(p23.2q22.3),伴有圣路易斯谷综合征的产前和产后发现。
Am J Med Genet A. 2013 Sep;161A(9):2369-75. doi: 10.1002/ajmg.a.36103. Epub 2013 Jul 25.
4
De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.从头发生的dup p/del q或dup q/del p重排染色体:104例独特染色体突变病例的综述。
Cytogenet Genome Res. 2013;141(1):58-63. doi: 10.1159/000351184. Epub 2013 May 30.
5
Revisiting recombinant 8 syndrome.重新探讨重组 8 综合征。
Am J Med Genet A. 2011 Aug;155A(8):1923-9. doi: 10.1002/ajmg.a.34104. Epub 2011 Jul 7.
6
Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication.端粒捕获作为与反向重复相关的末端染色体缺失稳定化的常见机制。
Cytogenet Genome Res. 2010;129(4):265-74. doi: 10.1159/000315887. Epub 2010 Jul 6.
7
Unusual 8p inverted duplication deletion with telomere capture from 8q.伴有来自8q端粒捕获的异常8号染色体短臂倒位重复缺失。
Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17.
8
Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement.一种独特且复杂的新发8p重排的分子细胞遗传学特征
Am J Med Genet A. 2008 May 1;146A(9):1166-72. doi: 10.1002/ajmg.a.32248.
9
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.与重组8综合征相关的inv8染色体断点的克隆、测序及分析
Am J Hum Genet. 2000 Mar;66(3):1138-44. doi: 10.1086/302821.
10
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.美国西南部西班牙裔人群中重组8综合征的遗传风险及平衡倒位8的传递率。
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