A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex

J Pediatr Hematol Oncol. 2015 Oct;37(7):e429-32. doi: 10.1097/MPH.0000000000000372.

Abstract

A preterm infant presenting with a congenital cardiac malformation and thrombocytopenia was found to have a karyotype showing a terminal deletion of the long arm of chromosome 11 of the segment 11q24.1-11qter consistent with Jacobsen syndrome. The infant was later diagnosed with Paris-Trousseau syndrome, commonly associated with Jacobsen syndrome. Because children with cardiac malformations often require high-risk surgical procedures in the early neonatal period, those with platelet dysfunction require prompt identification at birth.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Female
  • Humans
  • Infant, Newborn
  • Jacobsen Distal 11q Deletion Syndrome / complications*
  • Karyotype