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

Marko Culjat, Jennifer Razak, Reem Saadeh-Haddad, Rita Driggers, Karen Kamholz, Julia Timofeev

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1525-1530
Number of pages6
JournalClinical Case Reports
Volume6
Issue number8
DOIs
StatePublished - Aug 2018

Keywords

  • 19p deletion
  • hiatal hernia
  • hypotonia
  • intrauterine growth restriction
  • neonate
  • pyloric stenosis
  • small for gestational age

ASJC Scopus subject areas

  • Medicine(all)

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