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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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Sismani, Carolina, Christopoulou, Georgia, Alexandrou, Angelos, Evangelidou, Paola, Donoghue, Jacqueline, Konstantinidou, Anastasia E., Velissariou, Voula
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4334433/
https://ncbi.nlm.nih.gov/pubmed/25722899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/517678
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