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17p13.3 deletion syndrome
Relevant markers:
ClubfootConotruncal anomaliesCorpus callosum dysgenesisDouble outlet right ventricle (DORV)Hypoplastic left ventricleLissencephalyMicrocephalyOmphalocelePolyhydramniosShallow sylvian fissureSingle umbilical artery (SUA)Tetralogy of Fallot (TOF)Parents markers:Abnormal sulcationAgenesis of corpus callosum (ACC)Intrauterine growth retardation (IUGR/SGA/FGR)Short limbsVentriculomegaly
References: 2009 Taiwan J Obstet Gynecol Case report Read on PubMed 2013 Gene Review Read on PubMed Login for more details.