| Author | Nakamura-Pereira, Marcos | |
| Author | Cima, Luciana Carneiro do | |
| Author | Llerena Junior, Juan Clinton | |
| Author | Guerra, Fernando Antonio Ramos | |
| Author | Peixoto-Filho, Fernando Maia | |
| Access date | 2015-05-06T12:32:29Z | |
| Available date | 2015-05-06T12:32:29Z | |
| Document date | 2009 | |
| Citation | NAKAMURA-PEREIRA, Marcos et al. Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and dandy-walker malformation. Journal of Clinical Ultrasound: JCU, New York, v. 37, p. 471–474, Oct. 2009. | pt_BR |
| ISSN | 0091-2751 | |
| URI | https://www.arca.fiocruz.br/handle/icict/10246 | |
| Language | eng | pt_BR |
| Publisher | Wiley | pt_BR |
| Rights | restricted access | |
| Title | Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and dandy-walker malformation | pt_BR |
| Type | Article | |
| DOI | 10.1002/jcu.20612 | |
| Abstract | We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultra-sound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malfor-mation, ventriculomegaly, bilateral clubfoot, lip and palate clefts, arthrogryposis and hyperechoic kidneys with bilateral pelvic dilatation. At 30 weeks of gestation, a placental abruption was noted and a Cesarean sec-tion was performed. The infant died shortly after birth. A review of previous cases of tetrasomy 9p shows that the remarkable sonographic findings are ventriculome-galy, intrauterine growth restriction, genitourinary anomaly, Dandy-Walker malformation, cleft lip/palate and limb malformation, but the association of tetras-omy 9p and increased nuchal translucency had not been reported. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Unidade de Medicina Fetal. Departamento de Obstetrícia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Unidade de Medicina Fetal. Departamento de Obstetrícia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Unidade de Medicina Fetal. Departamento de Obstetrícia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Unidade de Medicina Fetal. Departamento de Obstetrícia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Subject | Tetrasomy 9p | pt_BR |
| Subject | Dandy-Walker Malformation | pt_BR |
| Subject | Nuchal Translucency | pt_BR |
| Subject | Ultrasonography | pt_BR |
| Subject | Obstetrics | pt_BR |
| Subject | Fetal Malformation | pt_BR |
| DeCS | Síndrome de Dandy-Walker | pt_BR |
| DeCS | Ultrassonografia | pt_BR |
| DeCS | Obstetrícia | pt_BR |
| Embargo date | 2030-12-31 | |
