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A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus
Joint Authors
Evangelidou, Paola
Alexandrou, Angelos
Christopoulou, Georgia
Donoghue, Jacqueline
Konstantinidou, Anastasia E.
Velissariou, Voula
Sismani, Carolina
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-02-04
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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 in the deletions.
In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs) and a single umbilical artery (SUA) and therefore amniocentesis was performed.
Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb.
Following termination of pregnancy, performance of fetopsy allowed further clinical characterization.
We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized.
In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS).
Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.
American Psychological Association (APA)
Sismani, Carolina& Christopoulou, Georgia& Alexandrou, Angelos& Evangelidou, Paola& Donoghue, Jacqueline& Konstantinidou, Anastasia E.…[et al.]. 2015. A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1058513
Modern Language Association (MLA)
Sismani, Carolina…[et al.]. A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus. Case Reports in Genetics No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1058513
American Medical Association (AMA)
Sismani, Carolina& Christopoulou, Georgia& Alexandrou, Angelos& Evangelidou, Paola& Donoghue, Jacqueline& Konstantinidou, Anastasia E.…[et al.]. A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1058513
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058513