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Another Case of De Novo 3q26.33q27.3 Microdeletion and Its Medicolegal Sequel

A new case of a de novo 3q26.33q27.3 microdeletion is reported. The fetus had a sonographically undiagnosable polymalformative syndrome. The case highlights the difficulties of echographic diagnosis of such syndromes and leads to reflection on the difficulties of appropriate counselling in cases of...

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Detalles Bibliográficos
Autores principales: Indraccolo, Ugo, Indraccolo, Salvatore Renato, Fedeli, Piergiorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820671/
https://www.ncbi.nlm.nih.gov/pubmed/29552365
http://dx.doi.org/10.1155/2018/1909056
Descripción
Sumario:A new case of a de novo 3q26.33q27.3 microdeletion is reported. The fetus had a sonographically undiagnosable polymalformative syndrome. The case highlights the difficulties of echographic diagnosis of such syndromes and leads to reflection on the difficulties of appropriate counselling in cases of uncertainty.