p Deletion Syndrome First Case in Morocco Detected by FISH
MedCrave
View Publication Info| Field | Value | |
| Title |
p Deletion Syndrome First Case in Morocco Detected by FISH
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| Creator |
Natiq, Abdelhafid
Amasdl, Saadia Liehr, Thomas Kreskowski, Katharina Meyer, Britta Ratbi, Ilhame Amzazi, Saaid Sefiani, Abdelaziz |
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| 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
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| Publisher |
Journal of Pediatrics & Neonatal Care
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| Date |
2014-11-02
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| Type |
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion Peer-reviewed Article |
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| Format |
application/pdf
text/html |
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| Identifier |
https://medcrave.org/index.php/JPNC/article/view/10018
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| Source |
Journal of Pediatrics & Neonatal Care; Vol 1, No 1 (2015): Issue 7
2373-4426 |
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| Language |
eng
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| Relation |
https://medcrave.org/index.php/JPNC/article/view/10018/18788
https://medcrave.org/index.php/JPNC/article/view/10018/18795 |
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| 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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