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首页> European journal of medical genetics> An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

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作者： Paola,Evangelidou ^[1] ; Ludmila,Kousoulidou ^[1] ; Nicole,Salameh ^[2] ; Angelos,Alexandrou ^[2] ; Ioannis,Papaevripidou ^[2] ; Ioanna-Maria,Alexandrou ^[2] ; Andria,Ketoni ^[2] ; Charithea,Ioannidou ^[2] ; Violetta,Christophidou-Anastasiadou ^[3] ; George A,Tanteles ^[4] ; Carolina,Sismani ^[5]

作者单位： Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus. ^[1] Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. ^[2] Archbishop Makarios III Medical Centre, Nicosia, Cyprus. ^[3] Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. ^[4] Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus. Electronic address: csismani@cing.ac.cy. ^[5]

关键词 22q11.21 microduplication Atypical 7q11.23 deletion Supravalvular aortic stenosis Williams-Beuren syndrome

主题词畸形, 多发性(Abnormalities, Multiple);成年人(Adult);主动脉狭窄, 瓣膜上(Aortic Stenosis, Supravalvular);染色体重复(Chromosome Duplication);染色体, 人, 22对(Chromosomes, Human, Pair 22);DiGeorge综合征(DiGeorge Syndrome);女(雌)性(Female);人类(Humans);婴儿(Infant);遗传方式(Inheritance Patterns);男(雄)性(Male);威廉斯综合征(Williams Syndrome)

DOI 10.1016/j.ejmg.2020.104084

PMID 33045407

发布时间 2021-06-01

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European journal of medical genetics

European journal of medical genetics

2020年63卷12期

104084页

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