Cat-eye syndrome in a fetus with increased nuchal translucency: three-dimensional ultrasound and echocardiographic evaluation of the fetal phenotype.

Autor:	Volpe, P., Buonadonna, A. L., Campobasso, G., di Carlo, A., Stanziano, A., Gentile, M.
Předmět:	PRENATAL diagnosis OBSTETRICAL diagnosis PRENATAL care REPRODUCTIVE technology CELL fusion CYTOGENETICS
Zdroj:	Ultrasound in Obstetrics & Gynecology; Sep2004, Vol. 24 Issue 4, p485-487, 3p, 4 Black and White Photographs
Abstrakt:	The article discusses the cat-eye syndrome (CES) in a fetus with increased nuchal translucency. This cat-eye syndrome is a rare disorder of chromosome 22 characterized by tetrasomy of the region that spans the chromosome 22p arm and part of 22q11. A case of CES diagnosed prenatally through cytogenetic and fluorescence in-situ hybridization analysis following chorionic villus sampling performed for increased nuchal translucency thickness at 12 weeks' gestation is reported.
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text