Interstitial duplication 19p

R. F. Stratton, B. R. DuPont, A. S. Olsen, A. Fertitta, M. Hoyer, C. M. Moore

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs). Use of fluorescent in situ hybridization (FISH) with chromosome 19-specific probes showed a direct duplication of bands 19p13.13 and 19p13.2.

Original languageEnglish (US)
Pages (from-to)562-564
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume57
Issue number4
DOIs
StatePublished - Jul 10 1995

Keywords

  • ASD
  • VSD
  • chromosome 19
  • congenital heart defects
  • duplication
  • midline facial anomalies
  • p13.13
  • p13.2
  • short arm

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Stratton, R. F., DuPont, B. R., Olsen, A. S., Fertitta, A., Hoyer, M., & Moore, C. M. (1995). Interstitial duplication 19p. American Journal of Medical Genetics, 57(4), 562-564. https://doi.org/10.1002/ajmg.1320570409