Mosaic trisomy 14 and aorta-pulmonary window association: A case report

Turk Kardiyol Dern Ars. 2019 Jun;47(4):319-323. doi: 10.5543/tkda.2018.25273.

Abstract

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. Congenital heart anomalies can accompany in this syndrome. To the best of our knowledge, this is the first case of mosaic trisomy 14 with an aortopulmonary window to be described in the literature.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Arachnodactyly
  • Arterio-Arterial Fistula / complications*
  • Arterio-Arterial Fistula / diagnostic imaging
  • Clubfoot
  • Computed Tomography Angiography
  • Echocardiography
  • Humans
  • Hypertelorism
  • Infant, Newborn
  • Infant, Premature
  • Micrognathism
  • Mosaicism*
  • Pulmonary Artery / abnormalities*
  • Pulmonary Artery / diagnostic imaging
  • Respiratory Distress Syndrome, Newborn / complications*
  • Respiratory Distress Syndrome, Newborn / therapy
  • Retrognathia
  • Trisomy / diagnosis*

Supplementary concepts

  • Aorta-pulmonary artery fistula
  • Respiratory Distress Syndrome In Premature Infants