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Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13
Author(s) -
Tan Rat. G. B.,
Witlox Ruben S. G. M.,
HilhorstHofstee Yvonne,
PeetersScholte Cacha M. P. C. D.,
den Hollander Nicolette S.,
Ruivenkamp Claudia A. L.,
Hoffer Mariëtte J.V.,
Hansson Kerstin B.,
van Roosmalen Mark J.,
Kloosterman Wigard P.,
Santen Gijs W. E.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37076
Subject(s) - gene duplication , tandem exon duplication , fluorescence in situ hybridization , breakpoint , biology , copy number variation , genetics , snp array , chromosome , genome , gene , single nucleotide polymorphism , genotype
Copy number variations (CNVs) on the short arm of chromosome 19 are relatively rare. We present a patient with a tandem de novo 3.9 Mb duplication of 19p13.12p13.2 and an adjacent 288 kb 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. © 2015 Wiley Periodicals, Inc.