摘要:

The phenylketonuria (PKU) dispensary of the Children's Hospital of the Charite, Berlin, GDR, cares for about 140 affected families, representing about one‐third of all PKU families in the GDR. Of these families, 15 expressed their desire for an additional child given the availability of a reasonably reliable prenatal diagnosis procedure. They were investigated by linked RFLP analysis applying a phenylalanine‐hydroxylase‐cDNA probe. Full genetic predictability for prospective fetuses could be obtained for all of them. In eight cases this was possible by the use of one restriction enzyme, and in the remaining seven by a combination of the information from two restriction‐enzyme patterns. No recombination between linked RFLP and the PKU phenotype could be observed in 40 meioses from the investigation of eight families with two affected childr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03303.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Thirty‐six families with tuberous sclerosis (TS) including 49 affected persons and 68 apparently unaffected first‐degree relatives were examined for dental abnormality. Fifty unrelated controls were similarly examined. Clinically observed multiple enamel pits (pitted enamel hypoplasia) were noted in 71% of persons with typical TS and in one out of 10 “atypical” cases.Enamel pits were rarely seen, and in small numbers only, in the control series, and they were rare in the otherwise apparently normal TS first‐degree relatives. However, one parent and one half‐sib of persons with typical TS, but themselves without other signs of TS, were found to have multiple enamel pits. Examination for pitted enamel hypoplasia should be made in all persons suspected of having TS and in all close relatives; enamel pits are a valuable clinical sign and may identify otherwise unsuspected carriers of the gene within

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03304.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Familial aggregation of fasting plasma glucose was studied in a sample of families examined at the Jerusalem Lipid Research Clinic. We first examined homogeneity of familial correlations across major origin groups in the Israeli sample. Correlations were generally homogeneous across origin groups, except for mother‐son pairs. The pooled familial correlations were relatively low for unadjusted blood glucose values, and somewhat higher upon adjustment for sex, age, ethnicity, education, seasonality, body mass, cigarette smoking, alcohol consumption and dietary intake. Genetic and cultural determinants of blood glucose were estimated utilizing a path model with 10 parameters to be estimated from a total of 16 correlations. Under a reduced model genetic heritability (h2) was estimated to be 0.18±0.08 and cultural heritability (c2) was 0.10 4±0.02. However, within this population the additive variation could be explained by a cultural model of inheritance without introducing genetic parameters, and most of the variance is due to “random” unmeasured environmental factors. Commingling analysis was also performed, and our findings imply that there is no evidence for admixture in the distribution of fasting blood glucose in this Israeli population

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03305.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In April 1985, having completed a study of the short‐term complications of chorionic villus sampling (CVS), we began a randomized comparison of CVS versus amniocentesis. Our study continued over a 15‐month period, and during that time we had difficulty recruiting patients, with only 10.6% of 1254 women referred for prenatal diagnosis fully participating in this study. However, 30.2% of those eligible by dates and indication chose to enter the study. CVS was available in our province only through this study, and the two most common reasons for such a low rate of recruitment were reporting too late in pregnancy and the concern about the potential risks of CVS. Patients continued to seek counselling too late for CVS despite direct and continuous contact with regional physicians. Our patients' concern about risk might well vary with the attitude of their physicians towards CVS, and with the information provided at the time of pre‐test counselling.The small number of patients actually enrolled did not permit any meaningful comparison of amniocentesis to CVS. However, our experience with pregnancies lost post‐CVS suggests that a pregnancy with an apparent low implantation at the time of sampling may be at a higher risk

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03306.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The relations between some hereditary and environmental factors and the variation in infant birth weight were estimated by multiple linear regression analyses on a sample of 276 Scandinavian single term pregnancies.Gestational age explained 10.9%, fetal factors (maternal and paternal birth weights and fetal sex) 7.9%, maternal factors (parity, pre‐pregnancy weight and height) 5.5% and external factors (adjusted weight gain and smoking) 5.8% of the variation in infant birth weight.It is concluded that maternal and paternal birth weights are rather poor predictors of infant birth weight. Together they explain only 5.6% of the variation in infant birth weight at ter

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03307.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A report is presented on a familial occurrence of isochromosome (18q) in a newborn infant and in a fetus in the 24th week of gestation after amniocentesis.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03308.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol‐kinase (ATP:glycerol‐3‐phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X‐chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03309.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A transcultural questionnaire study was made of 111 girls with Turner's syndrome aged 17 to 30 from Belgium, Canada, Denmark, France, the FRG and Hungary. The study reveals that there is still too much secrecy and ignorance concerning Turner's syndrome, and the diagnosis should be made and presented together with full information much earlier than at present, preferably at birth. More and better information concerning Turner's syndrome is needed in all participating countries, but more in some countries than in others. The study further shows that there is a great need for the establishment of Turner's syndrome societies or Turner contact groups so that such groups are available in all countries. The study also shows that in spite of personality profiles with characteristics such as happy, active, extroverted, realistic, talkative, and good contact abilities, far too many girls with Turner's syndrome suffer from anxiety, loneliness and inferiority feelings, especially in certain countries. This is definitely due to environmental factors that ought to be changed and can be changed by an increase in the level of information and research, together with establishment of Turner contact groups in all countries.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03310.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We studied the influence of genetic counseling for cystic fibrosis on family planning, using neonatal screening, family size at time of diagnosis, and maternal age as possible determinants for reproductive behaviour. The expected number of children born to mothers of equal age and parity in the same period was approximated on the basis of population statistics. These numbers were compared to the numbers of children born in the study group after a CF diagnosis and information on the 25% recurrence risk were given. A 50.8% reduction in childbirth was found in the study group, although 77% of families had decided against further high‐risk pregnancies. No statistically significant influence of neonatal screening could be demonstrated, but this may be due to the small number of families involve

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03311.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The genetic history in contemporary pedigree form is a useful tool for historical reading and study. The pedigree provides a guide to related personages and a data base for analysis. These points are illustrated by the family of Levi Barent Cohen, who came to London in the 18th century. There have been comparatively few consanguineous matings in the Cohen family. The family members have played central roles in Anglo‐Jewish life in their own right and through marriage to other families such as the Monteflores and Rothschild

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03312.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY