Digeorge syndrome

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22q11.2 Deletion Syndrome, 22q Deletion Syndrome, Digeorge Syndrome, Two Under Two, To My Grandson, Open Heart Surgery, Genetic Disorders, Rare Disease, Speech Language Pathology

One day, not so long ago, while changing an exceptionally bad diaper -- wipe in hand -- I looked up to Heaven with a grimace imploring, "Please, is there a patron saint of poopy diapers!?" At the time I had two under two running around with cloth diapers. Loads of fun. I thought it made for…

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Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. 22q Deletion Syndrome, Cri Du Chat Syndrome, Digeorge Syndrome, Prader Willi Syndrome, Nurse Things, Case Presentation, Chd Awareness, Genetic Diseases, Piano Playing

Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together.

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