Literature DB >> 16429396

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Peng Xiao1, Pengyuan Liu, James L Weber, Christopher J Papasian, Robert R Recker, Hong-Wen Deng.   

Abstract

Uniparental disomy (UPD) is a rare genetic abnormality. During a whole genome linkage study we identified a case of paternal uniparental isodisomy 3 serendipitously. This is the first ascertained human paternal UPD for chromosome 3 (UPD3pat). The finding of this paternal UPD case of the entire chromosome 3 with no apparent phenotypic disorders suggests that there are no paternal imprinted genes causing rare genetic disorders on chromosome 3. 2006 Wiley-Liss, Inc.

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Year:  2006        PMID： 16429396     DOI： 10.1002/humu.20302

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  4 in total

1.  Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Authors:  Siddharth Prakash; Scott A LeMaire; Molly Bray; Dianna M Milewicz; John W Belmont
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

2.  Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Authors:  Julia Kopp; Cristina Has; Alrun Hotz; Sarah C Grünert; Judith Fischer
Journal:  Genes (Basel)       Date:  2021-07-29       Impact factor: 4.096

3.  Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Authors:  Adele Schneider; Tanya M Bardakjian; Jie Zhou; Nkecha Hughes; Rosanne Keep; Darnelle Dorsainville; Femida Kherani; James Katowitz; Lisa A Schimmenti; Marybeth Hummel; David R Fitzpatrick; Terri L Young
Journal:  Am J Med Genet A       Date:  2008-11-01       Impact factor: 2.802

Review 4.  Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Authors:  Irene Ferrer-Bolufer; Jaime Dalmau; Ramiro Quiroga; Silvestre Oltra; Carmen Orellana; Sandra Monfort; Mónica Roselló; Alberto De La Osa; Francisco Martinez
Journal:  J Inherit Metab Dis       Date:  2009-12-23       Impact factor: 4.982
  4 in total

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