Syndromic Congenital Chylothorax - a 7q21.13q31.31 Duplication

Congenital chylothorax is a rare cause of respiratory distress in the newborns. It has a high mortality rate and its prognosis depends on the time of the diagnosis, etiology and therapy. The chromosomal gain, duplication of 28 Mb, including more than 200 genes, in the long arm of chromosome 7 (seq [GRCh37] 7q21.13q31.31, chr7:g.89783721_117877082dup) is very rare and is established as the likely etiology in this clinical case. Phenotypic reports of chromosomal imbalances are an important source for genetic counseling.