A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13 |
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| Authors: | Tsai Anne Chun-Hui Gibby Tamra Beischel Linda McGavran Loris Johnson John P |
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| Institution: | Department of Pediatrics, Division of Genetics and Metabolism, The Children's Hospital, University of Colorado Health Sciences Center, 1056 E. 19th Avenue, B300, Denver, CO 80218, USA. Tsai.chun-hui@tchden.org |
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| Abstract: | A child with Angelman syndrome, cutis aplasia, cleft palate, and congenital microform cleft lip, born to a father with a Robertsonian translocation 13;15 is described. Molecular studies using polymorphic markers on chromosomes 15 and 13 showed paternal uniparental disomy (UPD) 15 and segmental UPD 13. |
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