09
Dec
Darius Jackson – chromosome 13q deletion diagnosis – his story
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Darius’ Story Darius Jackson is my 29 year old young adult son born with Chromosome Deletion 13q 31-32. Shortly after his birth, my husband and I were given his chromosome disorder diagnosis. I remember that moment as it was yesterday, but I can’t tell you all that was said after... Read More
16
Aug
13q34 deletions and the role of genes SOX1 and ARHGEF7
13q34 deletions – or deletions at the terminal segment of the long arm of chromosome 13 – are very rare. Therefore, symptoms of 13q34 deletions are not well described. This article reports two brothers with 13q34 deletions, whose symptoms include intellectual disability, epilepsy, and genitourinary tract defects. From these cases,... Read More
