A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13

doi:10.1002/ajmg.a.20581

Article

A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13

6 Oct 2003

Abstract excerpt

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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A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13

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