Assortative mating results in an excess of homozygosity, whereas disassortative mating yields excess heterozygosity. It follows that assortative (or disassortative) mating based on local ancestry ...

Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and ...

28 If both parents have achondroplasia, then testing the pregnancy for homozygosity or compound heterozygosity for mutations in FGFR3 is readily available, because 97% of patients with ...

Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical ...

8 Institute of Pathology, University Medical Center Schleswig-Holstein, Lübeck, Germany 9 Institute of Pathology, University Medical Center Schleswig-Holstein, Kiel, Germany Correspondence to Dr ...

24 Homozygosity for the mutation 3849+10kbC→T predisposes to severe bronchiectasis but a normal sweat chloride concentration and male fertility.25 26 A positive sweat test and two cystic fibrosis ...