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charge_syndrome [2015/06/14 08:55] – created admincharge_syndrome [2026/07/27 12:08] (current) – Scott Larson
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   * **C**oloboma   * **C**oloboma
-    * Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals)+    * Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without [[microphthalmos|microphthalmos]] (80%-90% of individuals)
   * **H**eart Defects (75-85%)   * **H**eart Defects (75-85%)
     * Almost every type of congenital heart defect has been described including VSD, ASD, PDA     * Almost every type of congenital heart defect has been described including VSD, ASD, PDA
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   * Estimated to occur in 1:8,500 to 1:10,000 people   * Estimated to occur in 1:8,500 to 1:10,000 people
-Genetics 
  
-===== Inheritance Pattern ====== +===== Genetics ===== 
-  * Autosomal Dominant, most with new mutation+ 
 +  * Inheritance Pattern  
 +    * Autosomal Dominant, most with new mutation
   * Genes   * Genes
-  * CHD7 found to cause more than 50% of cases +    * CHD7 found to cause more than 50% of cases 
-  * CHD7 gene product regulates gene expression by chromatin remodeling. +    * CHD7 gene product regulates gene expression by chromatin remodeling. 
-  * CHD7 mutations can have varied and widespread effects during embryonic development+    * CHD7 mutations can have varied and widespread effects during embryonic development
  
 ===== Ocular Considerations ===== ===== Ocular Considerations =====
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 [[http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/83233|GeneTests Labs for Gene Testing]]\\ [[http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/83233|GeneTests Labs for Gene Testing]]\\
 [[http://chargesyndrome.org/manual/Heart.pdf|Cardiology of CHARGE]] [[http://chargesyndrome.org/manual/Heart.pdf|Cardiology of CHARGE]]
 +
 +{{tag>syndrome}}