Syndromic Congenital Chylothorax – a 7q21.13q31.31 Duplication | ||
| Journal of Pediatric Perspectives | ||
| مقاله 16، دوره 10، شماره 2، اردیبهشت 2022، صفحه 15495-15498 اصل مقاله (458.14 K) | ||
| نوع مقاله: case report | ||
| شناسه دیجیتال (DOI): 10.22038/ijp.2022.62053.4758 | ||
| نویسندگان | ||
| Raquel Monteiro Costa* 1؛ Ana Isabel Martins2؛ Joaquim Sá3؛ Ana Rodrigues Silva4؛ Raquel Henriques4 | ||
| 1Pediatric Department, Centro Hospitalar Tondela-Viseu, Viseu, Portugal | ||
| 2Pediatric Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal | ||
| 3Genetic Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal | ||
| 4Neonatology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal | ||
| چکیده | ||
| 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. | ||
| کلیدواژهها | ||
| congenital chylothorax؛ genetic syndrome؛ chromosomal gain | ||
|
آمار تعداد مشاهده مقاله: 438 تعداد دریافت فایل اصل مقاله: 383 |
||