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- W2020686523 abstract "A 12 year-old girl presented with cognitive disability and dysmorphic features. Chromosome microarray analysis revealed a de novo, approximately 4.5 Mb terminal deletion of the short arm of chromosome 12 at 12p13.33 region: chr12:100712-4607067. At 13 years this patient developed psychotic manifestations and was admitted to a psychiatric department for treatment. She started hearing voices, talking to herself and laughing without reason. We have previously reported a male individual with psychotic manifestations and a larger (6.2 Mb) terminal deletion in the same chromosomal region. The present case along with previous reports, define a 2 Mb region on chromosome 12p, where a psychosis-associated gene may be located. Included in this psychosis-associated area are 18 OMIM listed genes." @default.
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- W2020686523 date "2012-10-01" @default.
- W2020686523 modified "2023-10-16" @default.
- W2020686523 title "A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus" @default.
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- W2020686523 doi "https://doi.org/10.1016/j.ejmg.2012.04.012" @default.
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