Case report: precision genetic diagnosis in a case of syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications

HIGHLIGHTS

• who: November et al. from the University of Padua, Italy have published the article: Case Report: Precision genetic diagnosis in a case of syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications, in the Journal: (JOURNAL)
• how: A segregation study was carried out in all family members . The results showed that the proband does not share any of the haplotypes of his mother but has the same as those of his father proving the UPD.
• future: Studies are needed to determinate whether these epidrugs might become a valid chance . . .
  

   

  

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