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De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.

作者信息

Chelly J, Marlhens F, Le Marec B, Jeanpierre M, Lambert M, Hamard G, Dutrillaux B, Kaplan J C

出版信息

Hum Genet. 1986 Oct;74(2):193-6. doi: 10.1007/BF00282093.

DOI:10.1007/BF00282093
PMID:2876949
Abstract

The single X chromosome of a girl with Turner syndrome (45,X) and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with seven cloned probes mapping in the Xp21 region where the Duchenne locus is thought to be located. A molecular deletion was detected with probes pERT 87.1, pERT 87.8, and pERT 87.15. The other probes (754, C7, 99.6, and RC8) gave a normal signal. The DNA alleles seen in the two parents indicated that the deletion found in the propositus had occurred de novo on a maternal X chromosome.

摘要

相似文献

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De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.
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2
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本文引用的文献

1
MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.患有特纳综合征的女孩的杜氏肌营养不良症
J Med Genet. 1965 Mar;2(1):38-46. doi: 10.1136/jmg.2.1.38.
2
MUSCULAR DYSTROPHY: SOME RECENT ADVANCES IN KNOWLEDGE.肌肉萎缩症：知识领域的一些最新进展
Br Med J. 1964 May 16;1(5393):1271-4 CONTD. doi: 10.1136/bmj.1.5393.1271.
3
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.X染色体短臂上一个克隆DNA序列与杜氏肌营养不良症的连锁关系。
全基因组测序鉴定出导致两名女孩患有杜氏肌营养不良症的基因中的新结构变异。
Int J Mol Sci. 2023 Sep 1;24(17):13567. doi: 10.3390/ijms241713567.
4
Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.特纳综合征嵌合体 45,X/46,XY 伴生殖器模糊和杜氏肌营养不良症：罕见意大利病例的转化方法。
Int J Mol Sci. 2022 Nov 19;23(22):14408. doi: 10.3390/ijms232214408.
5
Duchenne muscular dystrophy.杜氏肌营养不良症。
Nat Rev Dis Primers. 2021 Feb 18;7(1):13. doi: 10.1038/s41572-021-00248-3.
6
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.针对可进行外显子跳跃治疗的缺失进行杜氏肌营养不良症的新生儿筛查。
Sci Rep. 2021 Feb 4;11(1):3011. doi: 10.1038/s41598-021-82725-z.
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Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.心肌受累在肌营养不良症女性中的表现：当前的认识及其对肌营养不良症治疗的影响。
Genes (Basel). 2020 Jul 8;11(7):765. doi: 10.3390/genes11070765.
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Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.1051 个中国杜氏/贝克型肌营养不良症家系的遗传学分析。
BMC Med Genet. 2019 Aug 14;20(1):139. doi: 10.1186/s12881-019-0873-0.
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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.152 例特纳综合征患者的双重诊断：对第二状况的认识可能会导致治疗和/或监测的改变。
Am J Med Genet A. 2018 Nov;176(11):2435-2445. doi: 10.1002/ajmg.a.40470. Epub 2018 Aug 6.
10
A Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.一种导致女性患者肌营养不良症的 dystrophin 基因突变。
Chin Med J (Engl). 2017 Oct 5;130(19):2273-2278. doi: 10.4103/0366-6999.215338.
Nature. 1982 Nov 4;300(5887):69-71. doi: 10.1038/300069a0.
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Sex vesicle loss: a possible explanation of the excess of XO over XXY conceptuses in mice and men.性泡缺失：小鼠和人类中XO胚胎比XXY胚胎多的一种可能解释。
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6
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Am J Hum Genet. 1985 Mar;37(2):250-67.