Assuntos
Dermatoglifia , Computadores , Feminino , Genética Médica , Genótipo , Humanos , Fenótipo , Gravidez , GêmeosRESUMO
A kindred of 68 French Acadians who were heterozygous for a dominant gene of Charcot-Marie-Tooth disease associated with peripheral nerve hypertrophy are described. Marriage between 2 heterozygotes resulted in 2 homozygous offspring. Clinical features of the homozygotes were similar to the classic description of Dejerine-Sottas disease. Laboratory studies in this family revealed no chemical, metabolic, or chromosomal abnormalities in either the homozygotes or the heterozygotes.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Genes Dominantes , Atrofia Muscular/genética , Adulto , Idoso , Doença de Charcot-Marie-Tooth/patologia , Doença de Charcot-Marie-Tooth/fisiopatologia , Feminino , Heterozigoto , Homozigoto , Humanos , Masculino , Condução NervosaAssuntos
Dermatoglifia , Triagem de Portadores Genéticos , Cuba , Feminino , Frequência do Gene , Genes Dominantes , Alemanha Ocidental , Humanos , Indígenas Norte-Americanos , Judeus , Louisiana , Masculino , Modelos Genéticos , Gravidez , Fatores Sexuais , GêmeosAssuntos
Dermatoglifia , Genes , Feminino , Alemanha/etnologia , Humanos , Endogamia , Louisiana , Masculino , Linhagem , Fenótipo , Gravidez , Fatores Sexuais , Gêmeos MonozigóticosAssuntos
Dermatoglifia , Frequência do Gene , Genes Dominantes , Gêmeos Monozigóticos , Gêmeos , Feminino , Genótipo , Humanos , Itália , Masculino , Gravidez , Fatores Sexuais , Estados UnidosRESUMO
Among 59 sets of MZ male twins and 48 sets of MZ female twins from Italy, 7 male sets (11.9%) and 7 female sets (14.6%) had absent c-triradius on one or more palms; among 214 individuals who had a MZ twin, 19(8.9%) had absent c-triradius in one or both palms. Due to small numbers these percentages are comparable to the occurrence of absent c-triradius found in 8.2% of 3946 Caucasians. When one member of a set of MZ twins showed the trait in one or both palms, 35.7% (5/14) of the other members also showed the trait in one or both palms. When an individual showed the trait in one palm, 26.3% (5/19) of the other palms also showed the trait. These two estimates of penetrance combined give an average value of 30.3% (10/33) which is comparable to an estimate of 30% found in a study of 478 family units in which transmission was compatible with an autosomal dominant gene.
