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Heritability of Disease
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21 trisomy aberrations abnormal allele Amer amino acid amniocentesis anemia anomalies antibodies antigen appears autosomal dominant autosomal recessive band Barr bodies beta birth blood group cardiac cardiovascular cause chain Chapter child chro chromo chromosome cleft lip clinical crease deafness deficiency dermatoglyphic diagnosis digits disorder distal drome dysplasia environmental enzyme etiology example factors female Figure first-degree relatives frequency genetic counseling heart lesions hemoglobin hemophilia hereditary heritability heterozygote heterozygous homozygote homozygous human Hurler increased infant karyotype kidney locus male malformations medium fluorescent mendelian mental retardation metabolism mosaicism mosome mother multifactorial inheritance mutant normal occur offspring palate parents patients pattern Pediat pedigree phenotype polydactyly population proband produce protein recurrence risk rubella septal defect sibs single mutant gene skin specific stenosis stigmata studies Table teratogenic thalassemia threshold tion translocation triradius trisomy Turner syndrome twins Ullrich-Noonan variable X chromosome X-linked XO Turner syndrome