Showing papers on "Anticipation (genetics) published in 1976"
TL;DR: No differences exist between the ages of death of affected mothers and their affected children, but a small difference of approximately two ymrs remains between affected fathers and their Affected children.
Abstract: Summary
Bird et al. (1974) noted an interesting ‘anticipation’ phenomenon in Huntington's Chorea occurring in patients who inherited the gene from their father. More extensive samples from 165 pedigrees in the Low Countries permitted us to show that most of this apparent ‘anticipation’ is an artifact due to sampling biases related to the year of birth categories of the affected parents. When these biases were excluded no differences exist between the ages of death of affected mothers and their affected children, but a small difference of approximately two ymrs remains between affected fathers and their affected children. This is explainable by the observation that juvenile cases of Huntington's Chorea usually have inherited the abnormality from their father.
17 citations
Journal Article•
TL;DR: On the basis of the low fertility associated with the disease, the authors postulate that new mutations may not be rare, and emphasize two little known symptomatic features, the first being the frequency of lithiasis, the second thefrequency of neoplasms.
Abstract: As a result of retrospective genealogical studies on 41 cases of myotonic dystrophy, the authors have found: 1) sound arguments to support the hypothesis of anticipation often discussed in association with this disease; 2) a high rate of mortinatality in the progeny of affected females; this aspect merits being taken into consideration in genetic counselling and should be reported to obstetricians. Its pathogenetic determination still remains obscure; 3) a relative frequency of illegitimacy in familes with affected fathers. On the basis of the low fertility associated with the disease, the authors postulate that new mutations may not be rare. Finally, they emphasize two little known symptomatic features, the first being the frequency of lithiasis, the second the frequency of neoplasms. This latter observation, however, still requires confirmation.
1 citations
TL;DR: Since progression of certain types of cirrhosis can be prevented by withdrawal of the offending agent or administration of anti-inflammatory drugs, optimal therapy depends on accurate diagnosis of the specific cause.
Abstract: Since progression of certain types of cirrhosis can be prevented by withdrawal of the offending agent or administration of anti-inflammatory drugs, optimal therapy depends on accurate diagnosis of the specific cause. Anticipation and appropriate treatement of complications will allow a more favorable prognosis.