For the deletions, the arrows indicate a) the deletion of chromosome 15q11-13 associated with Prader-Willi and Angelman syndromes, and b) the deletion of ... with the cat eye syndrome.
More information: Helene DiGregorio et al, Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic ...
A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 ...
Shashidar Pai, MD, Director, Genetics and Developmental Pediatrics Medical University of South Carolina, Children's Hospital, Charleston, South Carolina Author's email: stuarts@musc.edu Disclosure ...
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