Literature DB >> 15057988

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

Anne Chun-Hui Tsai1, Tamra Gibby, Linda Beischel, Loris McGavran, John P Johnson.   

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. Copyright 2003 Wiley-Liss, Inc.

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Year:  2004        PMID： 15057988     DOI： 10.1002/ajmg.a.20581

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  2 in total

1.  Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

Authors:  Laura Anesi; Paola de Gemmis; Massimo Pandolfo; Uros Hladnik
Journal:  J Mol Neurosci       Date:  2010-09-18       Impact factor: 3.444

2.  Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.

Authors:  Ganiyu O Oseni; Deepti Jain; Peter A Mossey; Tamara D Busch; Lord J J Gowans; Mekonen A Eshete; Wasiu L Adeyemo; Cecelia A Laurie; Cathy C Laurie; Arwa Owais; Peter B Olaitan; Babatunde S Aregbesola; Fadekemi O Oginni; Saidu A Bello; Peter Donkor; Rosemary Audu; Chika Onwuamah; Solomon Obiri-Yeboah; Gyikua Plange-Rhule; Olugbenga M Ogunlewe; Olutayo James; Taiye Halilu; Firke Abate; Lukman O Abdur-Rahman; Abimbola V Oladugba; Mary L Marazita; Jeffrey C Murray; Adebowale A Adeyemo; Azeez Butali
Journal:  Mol Genet Genomic Med       Date:  2018-08-23       Impact factor: 2.183
  2 in total

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