p Deletion Syndrome First Case in Morocco Detected by FISH

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Title p Deletion Syndrome First Case in Morocco Detected by FISH
 
Creator Natiq, Abdelhafid
Amasdl, Saadia
Liehr, Thomas
Kreskowski, Katharina
Meyer, Britta
Ratbi, Ilhame
Amzazi, Saaid
Sefiani, Abdelaziz
 
Description p deletion Syndrome or WAGR is an acronym for Wilms tumor aniridia genitourinary anomalies and mental retardation accordingly WAGR syndrome is a rare contiguous gene syndrome characterized by a de novo deletion in the distal band of p region The deletion may involve several neighboring genes including nbsp PAX nbsp responsible for aniridia and Wilms tumor gene WT Genetic testing using fluorescence nbsp in situ nbsp hybridization is the best method to detect a specific micro deletion in case a clinical suspicion is indicated We report here the first Moroccan case recognized as WAGR syndrome at first day of life being confirmed by molecular cytogenetics at years of age Early confirmation of such a diagnosis is important to provide comprehensive genetic counseling to the family to set up appropriate treatment and surveillance of the patient and to enrich genetic data on Moroccan population
 
Publisher Journal of Pediatrics & Neonatal Care
 
Date 2014-11-02
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Peer-reviewed Article
 
Format application/pdf
text/html
 
Identifier https://medcrave.org/index.php/JPNC/article/view/10018
 
Source Journal of Pediatrics & Neonatal Care; Vol 1, No 1 (2015): Issue 7
2373-4426
 
Language eng
 
Relation https://medcrave.org/index.php/JPNC/article/view/10018/18788
https://medcrave.org/index.php/JPNC/article/view/10018/18795
 
Rights Copyright (c) 2020 Abdelhafid AbdelhafidSaadia SaadiaThomas ThomasKatharina KatharinaBritta BrittaIlhame IlhameSaaid SaaidAbdelaziz Abdelaziz
https://creativecommons.org/licenses/by-nc/4.0
 

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