A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13

Anne Chun Hui Tsai; Tamra Gibby; Linda Beischel; Loris McGavran; John P. Johnson

A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13

Anne Chun Hui Tsai, Tamra Gibby, Linda Beischel, Loris McGavran, John P. Johnson

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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.

Original language	English (US)
Pages (from-to)	208-212
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	126 A
Issue number	2
State	Published - Apr 15 2004

Keywords

Angelman syndrome
Segmental
Trisomy 13
UPD 13 and UPD 15

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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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.",

keywords = "Angelman syndrome, Segmental, Trisomy 13, UPD 13 and UPD 15",

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AU - Tsai, Anne Chun Hui

AU - Gibby, Tamra

AU - Beischel, Linda

AU - McGavran, Loris

AU - Johnson, John P.

PY - 2004/4/15

Y1 - 2004/4/15

N2 - 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.

AB - 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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KW - Segmental

KW - Trisomy 13

KW - UPD 13 and UPD 15

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A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13

Abstract

Keywords

ASJC Scopus subject areas

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