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A male with mosaicism for ring 19 presented with a complex cardiac malformation, microcephaly and minor dysmorphic features. Intellectual development has been within normal limits. This chromosome aberration has been reported only twice before and no clear phenotype-karyotype correlations are...
Subjects with non-familial hypercholesterolemia who were homozygous for absence of an Xbal restriction site in the apolipoprotein B gene (genotype X2X2) had significantly lower values of apolipoprotein B than those possessing the site. Our data are in agreement with those of Berg (1986) and Law...
Of the families who had received genetic counselling between 1972 and 1981, 791 replied to a questionnaire which covered recall of information, post-counselling reproduction and attitudes towards counselling and prenatal diagnosis. Eighty percent had adequate knowledge of mode of inheritance and...
Four kindreds with family-specific malposition of cuspids were studied. Besides malposition of cuspids, the members also showed varying combinations of other anomalies: malposition, malformation or hypodontia of upper lateral incisors, second bicuspids and lower central incisors. The pedigrees...
Rates and survival figures for trisomy 13 and trisomy 18 have been calculated for Denmark (DK) based on a 10-year period (1977–86). The data have been ascertained through The Danish Central Cytogenetic Register, all cytogenetic laboratories in DK, paediatric departments throughout the country,...
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