title: Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21.
abstract: 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.
authors.affiliation: Fetal Medicine Unit, 15th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK. kate.langford@gstt.sthames.nhs.uk
authors.forename: K
authors.initials: K
authors.lastname: Langford
authors.forename: S
authors.initials: S
authors.lastname: Hodgson
authors.forename: M
authors.initials: M
authors.lastname: Seller
authors.forename: D
authors.initials: D
authors.lastname: Maxwell
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D015193:Chorionic Villi Sampling; D002881:Chromosomes, Human, Pair 12; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging; D018404:Isochromosomes; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology*; D011247:Pregnancy; D013577:Syndrome; D014463:Ultrasonography