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Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances
Authors:S Kjaergaard  K Sundberg  F S Jørgensen  M D Rohde  A M Lind  T Gerdes  A Tabor  M Kirchhoff
Institution:1. Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark;2. Department of Fetal Medicine, University Hospital of Copenhagen, Rigshospitalet, Denmark;3. Fetal Medicine Unit, Department of Obstetrics and Gynecology, University Hospital of Copenhagen, Hvidovre Hospital, Denmark
Abstract:
Keywords:prenatal diagnosis  subtelomere imbalance  MLPA  microdeletion syndrome  translocation  fetal malformation  chorionic villus sampling  amniocentesis
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