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13q deletion
Relevant markers:
Absent kidneyclinodactylyDandy Walker malformationExencephalyFacial dysmorphismHypertelorismHypoplastic left ventricleHypoplastic thumb/sMedian cleft lipMicrocephalyMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligodactylyPolydactylyPolyhydramniosTalipesAnal atresiaHypoplastic kidneysParents markers:Abnormal head shapeBradycardiaHoloprosencephalyIntrauterine growth retardation (IUGR/SGA/FGR)LimbsMicrophthalmiaHeartOpen neural tube defect (NTD)
References: 2012 Clin Exp Obstet Gynecol Case report and Systematic review Read on PubMed 2016 Genet Couns Case report Read on PubMed Login for more details.