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  • Jacobsen syndrome ( deletion 11q) Relevant markers:
    Clinodactyly 5th fingerCryptoorchidismDepressed nasal bridgeFacial cleftHypertelorismHypospadias/tulip signMicrocephalyMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaRenalTrigonocephalySingle umbilical artery (SUA)Persistent right umbilical vein (PRUV)Double outlet right ventricle (DORV)Large kidney/sHyperechogenic kidney/sCardiomegalyHydrops
    Parents markers:
    EarsHeartHoloprosencephalyIntrauterine growth retardation (IUGR/SGA/FGR)Ventriculomegaly
      Male — Female Ratio:1 — 2
      Involved genes:
      (gene — definition — chromosome)      		deletion distal long arm of chromosome 11
      Other online databases:OMIM
      References:
      2015 Obstet Gynecol Case report Read on PubMed
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