Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

Ratna N G B Tan, Ruben S G M Witlox, Yvonne Hilhorst-Hofstee, Cacha M P C D Peeters-Scholte, Nicolette S. den Hollander, Claudia A L Ruivenkamp, Mariëtte J V Hoffer, Kerstin B. Hansson, Mark J. van Roosmalen, Wigard P. Kloosterman, Gijs W E Santen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Copy number variations (CNVs) on the short arm of chromosome 19 are relatively rare. We present a patient with a tandem de novo 3.9Mb duplication of 19p13.12p13.2 and an adjacent 288kb deletion of 19p13.12. The CNVs were detected by genome wide SNP-array and confirmed by fluorescence in situ hybridization. Mate-pair sequencing revealed two breakpoint junctions leading to a germline tandem inverted duplication and an adjacent deletion. The patient had a major congenital heart defect and refractory edema leading to metabolic and endocrinological disturbances. Further complications occurred due to refractory chylothorax, severe inflammatory response syndrome, and repeating sepsis. After 2 months, the child died due to intractable respiratory failure. The phenotype of this patient was compared with reported patients with overlapping deletions or duplications. We conclude that the congenital heart defect, respiratory insufficiency, and abnormal neurologic examination are most likely due the contiguous gene deletion/duplication.

Original languageEnglish
Pages (from-to)1884-1889
Number of pages6
JournalAmerican Journal of Medical Genetics. Part A
Issue number8
Publication statusPublished - 1 Aug 2015


  • Chromosome 19 duplication and deletion
  • Congenital heart disease
  • Mate-pair sequencing
  • Refractory edema


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