An overview of 1p36 deletion syndrome and carcinogen genes; a role of genomics in everyday medicine
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1p36 deletion syndrome is a relatively common deletion syndrome with an incidence of 1 in 5000 births, making it the most common terminal deletion in humans. 1p36 deletion manifests with an array of phenotypic alterations including, but not limited to, intellectual disability, seizure disorder, dysmorphic facial features, congenital heart defects, and hypothyroidism. According to genetic literature widely available to patients and clinicians, such as ONIN and Gene Reviews, malignancy is not a common manifestation of this syndrome. This case, however, demonstrates malignancy as a consequence of 1p36 deletion syndrome.
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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License.