A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included i...

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Detalles Bibliográficos
Autores principales: Sismani, Carolina, Christopoulou, Georgia, Alexandrou, Angelos, Evangelidou, Paola, Donoghue, Jacqueline, Konstantinidou, Anastasia E., Velissariou, Voula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334433/
https://www.ncbi.nlm.nih.gov/pubmed/25722899
http://dx.doi.org/10.1155/2015/517678

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