Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21

Authors
Langford, K Hodgson, S Seller, M Maxwell, D
Citation
K. Langford et al., Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21, PRENAT DIAG, 20(8), 2000, pp. 670-672
Citations number
10
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
20
Issue
8
Year of publication
2000
Pages
670 - 672
Database
ISI
SICI code
0197-3851(200008)20:8<670:PSPTNT>2.0.ZU;2-8
Abstract
Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected f etal abnormality or following karyotyping for maternal age. We report a cas e that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21. Copyright (C) 2000 John Wiley & So ns, Ltd.