A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment.
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.
D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy
D005819:Genetic Markers