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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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發表在:Case Rep Genet
Main Authors: Sismani, Carolina, Christopoulou, Georgia, Alexandrou, Angelos, Evangelidou, Paola, Donoghue, Jacqueline, Konstantinidou, Anastasia E., Velissariou, Voula
格式: Artigo
語言:Inglês
出版: Hindawi Publishing Corporation 2015
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在線閱讀: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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