Premium
Nuchal thickening in Jacobsen syndrome
Author(s) -
McClelland S. M.,
Smith A. P. M.,
Smith N. C.,
Gray E. S.,
Diack J. S. W.,
Dean J. C. S.
Publication year - 1998
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1998.12040280.x
Subject(s) - medicine , amniocentesis , thickening , ultrasound , obstetrics , obstetrics and gynaecology , gestation , autopsy , fetus , karyotype , chromosome analysis , gynecology , pregnancy , prenatal diagnosis , chromosome , radiology , pathology , genetics , chemistry , polymer science , gene , biology
A routine detailed ultrasound examination performed at 20 weeks' gestation demonstrated the presence of nuchal thickening as an apparently isolated finding. The concentration of maternal α‐fetoprotein was normal and the risk of Down's syndrome was 1 in 6800. Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(q23) found in Jacobsen syndrome. Fetal autopsy performed following medical termination at 23 weeks confirmed the phenotype and internal abnormalities found in Jacobsen syndrome. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology