Notes in Clinical Genetics

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Published	08/12/2024	A {{c1::locus}} is the position of a gene on a chromosome.
Published	08/12/2024	{{c1::Alleles}} are alternative forms of a gene found at the same locus on homologous chromosomes.
Published	08/12/2024	{{c1::Homozygotes}} have2 identical alleles at a locus. {{c2::Heterozygotes}} have {{c3::2}} different alleles at a locus. {{c4::Hemizygotes}} have o…
Published	08/12/2024	{{c1::Genetic heterogeneity}} is a term used to describe the phenomenon where the same phenotype is caused by {{c2::different}} genotypic abnormaliti…
Published	08/12/2024	{{c1::Allelic heterogeneity}} occurs when the abnormal phenotype is caused by {{c2::different}} mutations at the {{c3::same}} locus.
Published	08/12/2024	Autosomal {{c1::dominant d}}isorders or traits are those expressed in either the {{c2::heterozygote or the homozygote}}.
Published	08/12/2024	What are the four charactersistic sof autosomal dominant disorders
Published	08/12/2024	{{c1::image-occlusion:rect:left=.7538:top=.4962:width=.2205:height=.1366:oi=1}}{{c3::image-occlusion:rect:left=.4077:top=.0091:width=.1436:height=.132…
Published	08/12/2024	{{c1::image-occlusion:rect:left=.2906:top=.0074:width=.3138:height=.1333:oi=1}}
Published	08/12/2024	What is the definition for a genetic mutation that impacts multiple organs {{c1::pleiotrophy}}
Published	08/12/2024	{{c1::Variable expression}} is said to occur when individuals with the same genotype have different phenotypes
Published	08/12/2024	{{c1::. Reduced penetrance}} may also be a feature of autosomal dominant conditions. {{c2::Penetrance}} is an all-or-none phenomenon.That is, one eith…
Published	08/12/2024	X-linked disorders are conditions for which the {{c1::locus}} is on the X chromosome
Published	08/12/2024	Describe the lyon hypothesis  there are four main principles
Published	08/12/2024	{{c1::Dosage compensation}} refers to the finding that females express only one allele (i.e., one "dose") of their X-linked genes, although they actu…
Published	08/12/2024	What are the six characteristics of x linked recessive inheritance{{c1:: (1) the incidence of the trait is much higher in males than females;}} (…
Published	08/12/2024	Hemophilia A and{{c1:: Duchenne muscular dystrophy (DMD)}} are x linked recessive
Published	08/12/2024	four characterisitics of x linked dominant ineritance {{c1::(1) affected males have no affected sons and only affected daughters (no normal daug…
Published	08/12/2024	{{c1::image-occlusion:rect:left=.0395:top=.0312:width=.4388:height=.1262:oi=1}}{{c2::image-occlusion:rect:left=.1125:top=.5218:width=.0504:height=.047…
Published	08/12/2024	{{c1::image-occlusion:rect:left=.0316:top=.417:width=.1014:height=.1086:oi=1}}{{c2::image-occlusion:rect:left=.216:top=.6121:width=.041:height=.0661:o…
Published	08/12/2024	{{c1::image-occlusion:rect:left=.0299:top=.0495:width=.0982:height=.1713:oi=1}}{{c2::image-occlusion:rect:left=.359:top=.1822:width=.0372:height=.164:…
Published	08/12/2024	{{c1::image-occlusion:rect:left=.2892:top=.2307:width=.1134:height=.0618:oi=1}}{{c2::image-occlusion:rect:left=.0625:top=.4789:width=.1697:height=.053…
Published	08/12/2024	These two disorders are autosomal recessive {{c1::Tay Sachs and Sickle Cell Anemia }}
Published	08/12/2024	{{c1::image-occlusion:rect:left=.0631:top=.0491:width=.8362:height=.125:oi=1}}{{c2::image-occlusion:rect:left=.5239:top=.5443:width=.3948:height=.056:…
Published	08/12/2024	What is an example of an x linked recessive disorder
Published	08/12/2024	X linked dominant disorder
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