Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

Child↗

PubMedDate not supplied

[Primary tumorous amyloid in bone].

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Aged↗

PubMedDate not supplied

Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients.

Mutation G551D of exon 11 of the cystic fibrosis transmembrane conductance regulator gene is one of the most common mutations in patients of European origin. In order to test the hypothesis that the mutation is identical by descent in these patients, we have studied haplotypes for the three intragenic microsatellite markers IVS8CA, IVS17bTA and IVS17bCA from 92 patients bearing this mutation, who had been referred to laboratories in Ireland, Scotland, England, France (Brittany) and the Czech Republic. In all cases we found that only haplotype 16-7-17 is associated with mutation G551D. Our results support the hypothesis of identity by descent of all cystic fibrosis chromosomes bearing mutation G551D in these patient populations, and suggest that given the combined mutation rate of the microsatellite markers, there is a low probability (p < 0.05) that the haplotype where mutation G551D first occurred remained unaltered for more than 170 generations.

Cystic Fibrosis↗

PubMedDate not supplied

[Views on sterilization of the Stage I Commission on Abortion in Ljubljana].

During the period from July 1, 1977 to May 31, 1980 the First Stage Commission for Permission of Abortion in Ljubljana accepted 100 requests for female sterilization, 34.9% of them being accepted for medical and 65.0% for non-medical reasons. The average age of women was 41 years which shows that the majority of women decided about sterilization late. A total of 51 women came to be sterilized. Nearly all of them are satisfied with the operation, they only regret that they had not done it earlier. At the end of the waiting period 35 women did not come for sterilization and nearly half of them changed their mind definitely. Generally speaking, the women are satisfied with sterilization. They think the age limit should be reduced from 35 to 30 years and that the waiting period should last 1 month only.

Adult↗