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Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

1 Aug 2019

Abstract excerpt

A male patient with mosaic paternal uniparental diploidy (PUD) is presented. After birth, the patient presented with hypoglycemia, hemihypertrophy, umbilical hernia, and hepatomegaly. Afterward pancreatic hypertrophy, liver hemangiomas, and cysts were detected sonographically. At the age of 3.5 months, hepatoblastoma was diagnosed. To investigate suspected Beckwith-Wiedemann syndrome (BWS), extensive genetic...

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PMID: 31373173
DOI: 10.1002/ajmg.a.61314

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