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Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

MedGen UID:
1843183
•Concept ID:
C5680249
•
Disease or Syndrome
Synonyms: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11; Mosaic paternal uniparental disomy of chromosome 11; UPD(11)pat
 
Monarch Initiative: MONDO:0019923
Orphanet: ORPHA96193

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Professional guidelines

PubMed

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM
Genet Med 2019 Nov;21(11):2644-2649. Epub 2019 May 31 doi: 10.1038/s41436-019-0551-9. PMID: 31147633Free PMC Article

Recent clinical studies

Etiology

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.
Eggermann T, Prawitt D
Expert Rev Endocrinol Metab 2022 Nov;17(6):513-521. Epub 2022 Nov 14 doi: 10.1080/17446651.2022.2144228. PMID: 36377076
Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L
Mol Genet Genomic Med 2021 Oct;9(10):e1796. Epub 2021 Sep 12 doi: 10.1002/mgg3.1796. PMID: 34510813Free PMC Article
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM
Genet Med 2019 Nov;21(11):2644-2649. Epub 2019 May 31 doi: 10.1038/s41436-019-0551-9. PMID: 31147633Free PMC Article
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, Jozaki K, Maeda T, Kawahara K, Hamasaki Y, Matsuo M, Nishioka K, Joh K, Mukai T, Soejima H
Hum Mol Genet 2016 Apr 1;25(7):1406-19. Epub 2016 Jan 28 doi: 10.1093/hmg/ddw023. PMID: 26908620

Diagnosis

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.
Eggermann T, Prawitt D
Expert Rev Endocrinol Metab 2022 Nov;17(6):513-521. Epub 2022 Nov 14 doi: 10.1080/17446651.2022.2144228. PMID: 36377076
Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.
Pinto EM, Rodriguez-Galindo C, Lam CG, Ruiz RE, Zambetti GP, Ribeiro RC
Front Endocrinol (Lausanne) 2021;12:756523. Epub 2021 Nov 5 doi: 10.3389/fendo.2021.756523. PMID: 34803919Free PMC Article
Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L
Mol Genet Genomic Med 2021 Oct;9(10):e1796. Epub 2021 Sep 12 doi: 10.1002/mgg3.1796. PMID: 34510813Free PMC Article
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Pignata L, Sparago A, Palumbo O, Andreucci E, Lapi E, Tenconi R, Carella M, Riccio A, Cerrato F
Genes (Basel) 2021 Apr 16;12(4) doi: 10.3390/genes12040581. PMID: 33923683Free PMC Article
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM
Genet Med 2019 Nov;21(11):2644-2649. Epub 2019 May 31 doi: 10.1038/s41436-019-0551-9. PMID: 31147633Free PMC Article

Therapy

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H
Endocr J 2013;60(4):403-8. Epub 2012 Nov 30 doi: 10.1507/endocrj.ej12-0242. PMID: 23197114

Prognosis

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.
Eggermann T, Prawitt D
Expert Rev Endocrinol Metab 2022 Nov;17(6):513-521. Epub 2022 Nov 14 doi: 10.1080/17446651.2022.2144228. PMID: 36377076
Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.
Pinto EM, Rodriguez-Galindo C, Lam CG, Ruiz RE, Zambetti GP, Ribeiro RC
Front Endocrinol (Lausanne) 2021;12:756523. Epub 2021 Nov 5 doi: 10.3389/fendo.2021.756523. PMID: 34803919Free PMC Article
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, Jozaki K, Maeda T, Kawahara K, Hamasaki Y, Matsuo M, Nishioka K, Joh K, Mukai T, Soejima H
Hum Mol Genet 2016 Apr 1;25(7):1406-19. Epub 2016 Jan 28 doi: 10.1093/hmg/ddw023. PMID: 26908620

Clinical prediction guides

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.
Pinto EM, Rodriguez-Galindo C, Lam CG, Ruiz RE, Zambetti GP, Ribeiro RC
Front Endocrinol (Lausanne) 2021;12:756523. Epub 2021 Nov 5 doi: 10.3389/fendo.2021.756523. PMID: 34803919Free PMC Article
Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L
Mol Genet Genomic Med 2021 Oct;9(10):e1796. Epub 2021 Sep 12 doi: 10.1002/mgg3.1796. PMID: 34510813Free PMC Article
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, Jozaki K, Maeda T, Kawahara K, Hamasaki Y, Matsuo M, Nishioka K, Joh K, Mukai T, Soejima H
Hum Mol Genet 2016 Apr 1;25(7):1406-19. Epub 2016 Jan 28 doi: 10.1093/hmg/ddw023. PMID: 26908620

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