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

Costa, Raquel Monteiro; Martins, Ana Isabel; S&aacute;, Joaquim; Silva, Ana Rodrigues; Henriques, Raquel

doi:10.22038/ijp.2022.62053.4758

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

Document Type : case report

Authors

Raquel Monteiro Costa ¹

Ana Isabel Martins ²

Joaquim Sá ³

Ana Rodrigues Silva ⁴

Raquel Henriques ⁴

¹ Pediatric Department, Centro Hospitalar Tondela-Viseu, Viseu, Portugal

² Pediatric Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

³ Genetic Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

⁴ Neonatology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

10.22038/ijp.2022.62053.4758

Abstract

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.

Keywords

congenital chylothorax

genetic syndrome

chromosomal gain