Confined placental mosaicism of Duchenne muscular dystrophy: a case report.

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第一作者： Max,Winerdal

第一单位： Department of Clinical Genetics, L4:03, Karolinska University Laboratory, Karolinska University Hospital, 171 76, Stockholm, Sweden.

作者： Max,Winerdal ^[1] ; Eini,Westenius ^[2] ; Michaela,Granfors ^[3] ; Maria,Pettersson ^[2] ; Erik,Iwarsson ^[4]

作者单位： Department of Clinical Genetics, L4:03, Karolinska University Laboratory, Karolinska University Hospital, 171 76, Stockholm, Sweden. ^[1] Department of Clinical Genetics, L4:03, Karolinska University Laboratory, Karolinska University Hospital, 171 76, Stockholm, Sweden.;Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. ^[2] Division of Obstetrics, Department of Women's Health, Karolinska University Hospital, Stockholm, Sweden.;Clinical Epidemiology Division, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden. ^[3] Department of Clinical Genetics, L4:03, Karolinska University Laboratory, Karolinska University Hospital, 171 76, Stockholm, Sweden. erik.iwarsson@ki.se.;Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. erik.iwarsson@ki.se. ^[4]

关键词 Amniocentesis Chorionic villus sampling Chromosome fragile site Confined placental mosaicism DNA copy number variation Duchenne?muscular dystrophy Mosaicism Placenta Prenatal diagnosis X chromosome

DOI 10.1186/s13039-020-00520-3

PMID 33334361

发布时间 2020-12-20

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