Titlebook: Genetic Counseling; Walter Fuhrmann,Friedrich Vogel Textbook 19833rd edition Springer-Verlag New York Inc. 1983 Chromosom.Erbkrankheit.Gen

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New Mutations and Nonhereditary Cases (Phenocopies and Somatic Mutations),ver any further cases in the proband’s family; of particular importance is the fact that there is nothing wrong with either of his parents. In situations of this kind, one of four explanations usually applies:

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extinct

松紧带

Recording a Family Medical History or Pedigree,n about the proband’s relatives even when the proband himself is clearly suffering from a genetic disorder of which the mode of inheritance has, ostensibly, been established. In genetics, there is always the possibility that a particular family will prove to be an exception. For example, a genetic d

Offbeat

The Autosomal Dominant Mode of Inheritance,at each human possesses in every single cell of his body. Two of these chromosomes are sex chromosomes (sex-determining; see Chapter 8) and the remaining 44 are known as autosomes. Traits determined by genetic information on these chromosomes are called autosomally inherited. The autosomes pair acco

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New Mutations and Nonhereditary Cases (Phenocopies and Somatic Mutations),to the autosomal dominant mode of inheritance. Frequently, however, the symptoms of the proband will be identical to those observed in other families with the same anomaly in which the autosomal dominant mode has been definitely established. Yet even the most painstaking research has failed to disco

舰旗

The Autosomal Recessive Mode of Inheritance and Tests for the Detection of Heterozygotes,zygous for the gene in question; i.e., they carry only one defective gene and the normal allele with its “healthy” information prevents the defect from manifesting itself. Figure 5.1 is a diagram of the typical situation.

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Chromosomal Aberrations,t reason for this was the discovery of methods with which human chromosomes could be made visible, first from fibroblasts and bone marrow cultures, then from lymphocyte cultures, and finally, from amniotic cell cultures. Chromosome analysis has become so generalized and so popular with the medical p