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Perinatal findings in a patient with a novel large chromosome 19p deletion.

Marko CuljatJennifer RazakReem Saadeh-HaddadRita DriggersKaren KamholzJulia Timofeev
Published in: Clinical case reports (2018)
We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complications.
Keyphrases
  • healthcare
  • pregnant women
  • copy number
  • palliative care
  • case report
  • preterm infants
  • genome wide
  • risk factors
  • high resolution
  • dna methylation
  • genome wide identification
  • gene expression
  • genome wide analysis