Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21.
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.
Langford
K
K
Fetal Medicine Unit, 15th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK. kate.langford@gstt.sthames.nhs.uk
Hodgson
S
S
Seller
M
M
Maxwell
D
D
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