Premium
Pallister–Killian syndrome presenting through nuchal translucency screening for trisomy 21
Author(s) -
Langford K.,
Hodgson S.,
Seller M.,
Maxwell D.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200008)20:8<670::aid-pd885>3.0.co;2-u
Subject(s) - tetrasomy , trisomy , nuchal translucency , aneuploidy , medicine , nuchal translucency measurement , obstetrics , down syndrome , prenatal diagnosis , chromosome abnormality , karyotype , gynecology , pregnancy , fetus , chromosome , genetics , biology , psychiatry , gene
Pallister–Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening scan for trisomy 21. Copyright © 2000 John Wiley & Sons, Ltd.