摘要:

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 et al. (1986) indicating that X2X2 homozygotes have lower levels of apolipoprotein B, total serum cholesterol, triglycerides and LDL cholesterol. The mechanism underlying this effect is unknown, but could reflect different LDL metabolism between subjects with different genotype

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02892.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

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 74% of recurrence risk. Knowledge of mode of inheritance was poorest in multifactorial transmission (63%) and knowledge of recurrence risk in X‐chromosomal disorders (61%). Forty‐five per cent of the families had started a pregnancy after the counselling. The variation was between 57% (risk –25%). Early lethality of the disorder and feasibility of a prenatal study contributed to positive reproductive decisions. Nine per cent of the children born after the counselling were affected by the disorder in question. The observed risks tended to match well with the expected ones. Sixty‐two per cent of the respondents felt that the counselling had had a great or moderate impact on their reproductive plans. Forty‐two per cent expressed a wish to hear the counsellor's opinion in addition to the facts. This was more common when the disorder was severe. Although most couples (53%) wished to have a prenatal study, if feasible, and abort an affected foetus, 16% were against abortion in such a case and 31% wished to have the study but were ambiguous about

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02893.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

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, The Medical Birth Register and The Register of Causes of Death in DK. Nineteen liveborn probands with trisomy 13 and 76 liveborn probands with trisomy 18 were found. No stillborn cases with trisomy 13 but 6 with trisomy 18 were found. By prenatal diagnosis 19 probands with trisomy 13 and 46 with trisomy 18 were found. Based on liveborn and stillborn probands, the prevalence at birth was 1 per 29374 for trisomy 13 and 1 per 6806 for trisomy 18. The median survival for trisomy 13 was 2.5 days, while the same figure for trisomy 18 was 6.0 days. The rates calculated seem rather low compared to earlier stud

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02894.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

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 provided convincing evidence for autosomal dominant transmission of the abnormalities studied. Their nature and location allow the assumption that they represent different expressions of one dominant gene causing a primary disturbance in the critical marginal area of the embryonic dental lamin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02895.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

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 recognize

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02896.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02897.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY