TY - JOUR
T1 - Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13
AU - Tan, Ratna N G B
AU - Witlox, Ruben S G M
AU - Hilhorst-Hofstee, Yvonne
AU - Peeters-Scholte, Cacha M P C D
AU - den Hollander, Nicolette S.
AU - Ruivenkamp, Claudia A L
AU - Hoffer, Mariëtte J V
AU - Hansson, Kerstin B.
AU - van Roosmalen, Mark J.
AU - Kloosterman, Wigard P.
AU - Santen, Gijs W E
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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.
AB - 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.
KW - Chromosome 19 duplication and deletion
KW - Congenital heart disease
KW - Mate-pair sequencing
KW - Refractory edema
UR - http://www.scopus.com/inward/record.url?scp=84937976314&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37076
DO - 10.1002/ajmg.a.37076
M3 - Article
C2 - 25900458
AN - SCOPUS:84937976314
SN - 1552-4825
VL - 167
SP - 1884
EP - 1889
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 8
ER -