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16p11.2 deletion syndrome
Relevant markers:
Congenital diaphragmatic hernia (CDH)Double outlet right ventricle (DORV)Hypoplastic thumb/sMicrognathia/retrognathiaMulticystic dysplastic kidney/sPostaxial polydactyly of fingersParents markers:Cleft palateHeart
Involved genes:
(gene — definition — chromosome)16p11.2 Inheritance mode: Sporadic (new mutation) Other online databases: OMIM References: 2011 J Med Genet 2 cases Read on PubMed 2016 J Obstet Gynaecol Can Case report Read on PubMed 2018 Clin Case Rep Case report Read on PubMed Login for more details.