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Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard, Sarah E; Lalonde, Emilie; Adzick, N Scott; Beck, Anita E; Bhatti, Tricia; De Leon, Diva D; Duffy, Kelly A; Ganguly, Arupa; Hathaway, Evan; Ji, Jianling; Linn, Rebecca; Lord, Katherine; Randolph, Linda M; Sajorda, Brian; States, Lisa; Conlin, Laura K; Kalish, Jennifer M.
Afiliación
  • Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Lalonde E; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Adzick NS; Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, USA.
  • Beck AE; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bhatti T; Department of Pediatrics, Division of Genetic Medicine, University of Washington & Seattle Children's Hospital, Seattle, WA, USA.
  • De Leon DD; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Duffy KA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ganguly A; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Hathaway E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ji J; Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, USA.
  • Linn R; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Lord K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Randolph LM; Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, and Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Sajorda B; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • States L; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Conlin LK; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Kalish JM; Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Genet Med ; 21(11): 2644-2649, 2019 11.
Article en En | MEDLINE | ID: mdl-31147633
PURPOSE: Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects, congenital hyperinsulinism, and predisposition to embryonal tumors. One of the molecular etiologies underlying BWS is paternal uniparental isodisomy of chromosome 11p15.5 (pUPD11). About 8% of pUPD11 cases are due to genome-wide paternal uniparental isodisomy (GWpUPD). About 30 cases of live-born patients with GWpUPD have been described, most of whom were mosaic and female. We present male patients with BWS due to GWpUPD, elucidate the underlying mechanism, and make recommendations for management. METHODS: Three male patients with GWpUPD underwent clinical and molecular evaluation by single-nucleotide polymorphism (SNP) microarrays in different tissues. Previously published cases of GWpUPD were reviewed. RESULTS: SNP microarray demonstrated a GWpUPD cell population with sex chromosomes XX and biparental cell population with sex chromosomes XY, consistent with dispermic androgenetic chimerism. CONCLUSION: SNP microarray is necessary to distinguish GWpUPD cases and the underlying mechanisms. The percentage of GWpUPD cell population within a specific tissue type correlated with the amount of tissue dysplasia. Males with BWS due to GWpUPD are important to distinguish from other molecular etiologies because the mechanism indicates risk for germ cell tumors and autosomal recessive diseases in addition to other BWS features.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Disomía Uniparental Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Disomía Uniparental Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos