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Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
Authors:Marshall I. B. Fontes  Ana P. Santos  Miriam C. Molck  Milena Simioni  Diogo L. L. Nascimento  Ana K. M. Andrade  Carla Rosenberg  Ana C. V. Krepischi  Simone Appenzeller  Isabella L. Monlleó  Vera Lúcia Gil‐da‐Silva‐Lopes
Affiliation:1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil;2. Medical Genetics Sector, State University of Health Sciences of Alagoas, Maceió, Alagoas, Brazil;3. Clinical Genetics Service, Faculty of Medicine, University Hospital, Federal University of Alagoas—UFAL, Maceió, Alagoas, Brazil;4. Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil;5. Department of Medical Clinical, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil;6. Correspondence to:;7. Vera Lúcia Gil‐da‐Silva‐Lopes, M.D., Ph.D., Department of Medical Genetics, University of Campinas—FCM, Tessália Vieira de Camargo Street, 126–CEP 13083‐887—Campinas, São Paulo, Brazil. E‐mail:
Abstract:
Keywords:16p13.3 duplication  22q13.33 deletion  array‐GH  congenital defects  genotype‐phenotype correlation  microarray  translocation
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