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  • Title: A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment.
    Author: Christian JC, Dexter RN, Palmer CG, Muller J.
    Journal: Am J Med Genet; 1980; 6(4):301-8. PubMed ID: 6938130.
    Abstract:
    We report a family in which a mentally retarded, proportionately dwarfed girl had a child from a presumably incestuous mating that had the Ellis van-Creveld syndrome, presumed autosomal recessive hydrocephalus (Dandy-Walker type), and homozygosity for an extremely long 9qh+ chromosomal marker. The mentally retarded mother had normal birth weight, unusual facial appearance, and virtual absence of secondary sexual hair; she developed severe hypoglycemia during pregnancy. Her parents were first cousins, and she may have a previously unreported autosomal recessive syndrome.
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