WebNov 21, 2013 · Clinical characteristics: 22q11.2 duplication is defined for this GeneReview as the presence of a common 3-Mb or 1.5-Mb proximal tandem duplication. The 22q11.2 duplication phenotype appears to be generally mild and highly variable; findings range from apparently normal to intellectual disability / learning disability, delayed psychomotor ... Web17q12 Microduplications - Unique

17q12 deletion syndrome - MedlinePlus

WebClinical resource with information about Hyperphosphatasia with intellectual disability syndrome 1 and its clinical features, PIGV, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB Web17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12. Signs and symptoms related to 17q12 duplications vary significantly, even among members of the same family. Some … switch twilight princess

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WebA total of 19 cases of 17q12 duplication were confirmed. AP was diagnosed during exploratory laparotomy in four patients (21.1%). The other common features of 17q12 duplication included intellectual disability … WebOct 4, 2012 · CHROMOSOME 17q12 DELETION SYNDROME Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:33,500,001-39,800,000 Gene-Phenotype Relationships Location Phenotype Web17Q12 Microdeletions - Unique switch tv模式音频