1p36 deletion syndrome

1p36 deletion syndrome Relevant markers:

Agenesis of vermisAtrial septal defect (ASD)Choroid plexus cyst (CPC)ClubfootDistal contractures/arthrogryposisEarly IUGR/SGAEbstein's anomalyHigh AFPHypertelorismLeft ventricular non-compactionNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaSingle umbilical artery (SUA)Tortuous aortaTruncus arteriosusEchogenic bowel

Parents markers:

HeartPyelectasis/hydronephrosisVentricular dysproportionVentricular septal defect (VSD)Ventriculomegaly

Incidence:

15/100000 — -

References:

2008	Am J Med Genet A	Two case reports and review	Read on PubMed
2010	Taiwan J Obstet Gynecol	Review	Read on PubMed
2018	Taiwan J Obstet Gynecol	Case report	Read on PubMed