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  • Treacher-Collins syndrome Relevant markers:
    Choanal atresiaHydramniosHypertelorismMicrognathia/retrognathiaSingle umbilical artery (SUA)Nasal bone hypoplasia / aplasia
    Parents markers:
    Abnormal profileCleft in hard palateCleft lipEarsEyesCleft palate
      Incidence:1/40000 — 1/70000
      Involved genes:
      (gene — definition — chromosome)      		POLR1C — POLYMERASE I, RNA, SUBUNIT C — 6p21.1 , POLR1D — POLYMERASE I, RNA, SUBUNIT D — 13q12.2 , TCOF1 — TCOF1 GENE — 5q32
      Inheritance mode:AD, Sporadic (new mutation)
      Other online databases:OrphaNet, OMIM, Geneva Foundation, Jablonski's Database
      References:
      2004 Am J Med Genet A Read on PubMed
      2013 Case Rep Obstet Gynecol. Read on PubMed
      2013 Birth Defects Res A Clin Mol Teratol Case report Read on PubMed
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