22
Jul
Pure duplication of distal 19p13.3
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The genotype-phenotype correlation of 19p13.3 duplications reported in literature is difficult to characterize because of the inconsistency in the size and gene content. Many reported duplications are the result of a translocation and thus have contributory genomic deletion contaminating the phenotype. Bain et al. introduce a distal 2.6 Mb duplication... Read More
27
Feb
Kenzie Kauble – a glimpse into an amazing child’s life
Kenzie Kauble’s Story: when we decided to have our second child we went through all the standard tests, ultrasounds, and doctor appointments. It was a normal pregnancy and delivery with no complications. We brought our beautiful daughter Kenzie home and noticed she was a rather fussy baby. In fact, she... Read More
