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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Bibliographic Details
Main Authors: Carolina Sismani, Georgia Christopoulou, Angelos Alexandrou, Paola Evangelidou, Jacqueline Donoghue, Anastasia E. Konstantinidou, Voula Velissariou
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2015/517678