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Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City 04530, Mexico.
Genome-wide paternal uniparental isodisomy mosaicism (GWpUPIDM) is an extremely rare condition characterized by varying proportions of an androgenetic cell line across different tissues. It is primarily associated with severe congenital hyperinsulinism (CHI), Beckwith-Wiedemann syndrome (BWS) stigmata, a high risk (69-79%) of developing neoplasia and, in some cases, additional manifestations of multilocus paternal imprinting disorders (MPIDs). We herein report the first Mexican/Latin American female patient GWpUPIDM presenting with non-syndromic CHI requiring subtotal pancreatectomy and persistent but unexplained asymptomatic diffuse hepatopathy.
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Department of Obstetrics and Gynecology, University of South Dakota Sanford School of Medicine.
Placental mesenchymal dysplasia (PMD) and hepatic mesenchymal hamartomas are rare diseases associated with Beckwith-Wiedemann Syndrome (BWS). We present the case of a 22-year-old diagnosed with PMD at 24 weeks gestation who required emergent delivery secondary to fetal distress and preeclampsia at 30 weeks' gestation. The neonate was diagnosed with a hepatic mesenchymal hamartoma following delivery.
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Departamento de Pediatría.
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Proc Natl Acad Sci U S A
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Department of Genomic Medicine, University of Cambridge and National Institute for Health and Care Research Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom.
The investigation of congenital imprinting disorders (CIDs) provides opportunities to elucidate the molecular mechanisms and role of genomic imprinting in development and human disease. Beckwith-Wiedemann spectrum (BWSp) is a prototypic CID resulting from genetic and epigenetic alterations of imprinted genes at chromosome 11p15.5.
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