摘要:

Two brothers with Crouzon craniofacial dysostosis syndrome born to normal unrelated parents are described. Paternity studies show the probability of paternity is 99.6%. This report appears to represent the first example of germinal mosaicism in Crouzon syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03429.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

This paper describes a complex combination of four thalassemia genes (δ+, βo, nondeletion and deletion α‐thalassemia) in the spouse of a typical high Hb A2 β‐thalassemia carrier presenting for genetic counselling. This complex gene combination resulted in a hematological phenotype, characterized by thalassemia‐like red cell indices, normal Hb A2 and Hb F levels and slightly reduced α/β globin chain synthesis ratio, and therefore not indicative for the presence of β‐thalassemia trait. Family studies in combination with α‐globin gene mapping, haplotype analysis at the β‐globin gene cluster and definition of the β‐thalassemia mutation by oligonucleotide hybridization led us to identify a β‐thalassemia mutation, to define the molecular basis for this phenotype and give the appro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03430.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Two moderately repetitive DNA probes (Y190 and Y431) and a fluorescentin situhybridization technique, using a biotin, avidin, anti‐avidin system, were employed to investigate a group of patients with Y chromosome abnormalities. In normal male subjects, a bright fluorescent spot could be detected in cells in interphase and on the short arm of the Y chromosome in metaphase spreads. Translocations of DNA fragments of the short arm of the Y chromosome to autosomes 10, 13 and 15 were observed in five patients. In a 45,XX male subject the translocation involved one of the X chromosomes. With thisin situhybridization procedure, bright fluorescent spots were also noticed in uncultured amniotic cells and chorionic cellular elements from male fetuses, thus allowing a rapid and reproducible approach to prenatal fetal sexin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03431.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Linkage studies have been carried out with 28 X‐linked polymorphic probes to try to locate the gene for X‐linked lymphoproliferative disease (XLP). DNA from three families has been analysed, including three affected boys among 21 family members. None of the probes tested has been found to be linked to XLP. However, the data are recorded for the use of other workers on this rare dise

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03432.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Two hundred and eight fragile X subjects (92 males and 116 females) and matched Australian (60 males and 32 females) and British (122 males and 118 females) normal samples were used to calculate 4 discriminant functions, based on dermatoglyphic measurements. The most efficient discriminating variables between fragile X and normal males, selected by means of the Wilk's stepwise method, included: ridge counts on fingers 1–3, the hallucal (f) count on soles, theatdangle, and pattern intensities in palmar areas 2, 4 and 5 as well as on fingers 4 and 5. In females, the ridge breadth, the hallucal (e) count, theatdangle and pattern intensities in palmar areas 3–5 as well as on fingers 1, 3 and 5 comprised the final discriminant. The misclassification rate based on distributions of individual discriminant scores in each pair of samples, and on prior probabilities, was lowest (16.8%) in fragile X males compared with the Australian normal subjects. In both female comparisons, this rate approached 44%. A bias to misclassification rates resulting from various analytical procedures and some properties of the data are discussed. We conclude that the discriminant function based on dermatoglyphic measured variables alone is not good enough for assessing carrier probabilities for fragile X, especially in females. However, we have been able to select the best discriminators which may be used, together with other measured body characteristics, to obtain a more powerful discriminant function. Moreover, a consideration of discriminant scores based on dermatoglyphic traits only may help in estimating carrier probabilities. We propose that the discriminant function based on such scores is most appropriate for use as a dermatoglyphic diagnostic index, since indices which are derived from frequencies of binary traits tend to understimate misclassification ra

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03433.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Genomic DNA from 17 Swedish patients with familial amyloidotic polyneuropathy (FAP), and 50 healthy controls were tested with a cDNA transthyretin probe. In seven of the patients, FAP was not reported in either of their parents. All 50 controls showed restriction fragments of 6.6 kb and 3.2 kb after cleavage with Nsil, while the 17 FAP patients showed RFLP markers of 5.1 and 1.5 kb. These observations indicate the same methionine for valine substitution at position 30 in Swedish patients with FAP as seen in patients with FAP from Japan, Portugal and FAP‐patients of Swedish descent from USA. However, the mean onset of FAP symptoms for the 17 Swedish patients was found to be significantly later than for the patients from Japan, Portugal and US

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03434.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

An epitope of Apolipoprotein B (ApoB), recognised by a monoclonal antibody BIP‐45, is associated with the development of ischaemic heart disease (Duriez et al. 1988). We have examined the genetic relationships between this epitope and three Restriction Fragment Length Polymorphisms (RFLPs) of the gene for ApoB detected with the enzymes EcoRI, PvuII and XbaI in a sample of 53 unrelated individuals from France. There is an association between binding affinity to BIP‐45 and the XbaI RFLP; the 8.6kb XbaI allele (absence of cutting site) being associated with low‐affinity binding to BIP‐45. In this sample of individuals there is no significant association between serum cholesterol levels and BIP‐45 binding affinity, but there is a significant correlation between serum cholesterol levels and XbaI genotype, with individuals of the genotypeXIXIhaving the highest and those with the genotypeX2X2having the lowest levels of serum cholesterol. This suggests that variation at the ApoB locus may be involved independently in the determination of serum lipid levels and in the development of ischaemic hear

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03435.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Long‐term surveillance of Huntington's disease families living in South Wales has been undertaken since 1973. We report the updated data on prevalence and births in 101 kindreds. The trend in the births at risk of Huntington's disease has been compared with a control population in North Wale

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03436.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A review of the literature about parents' experiences with amniocentesis is given in the first part of this paper. In the second part the results of a follow‐up study in Belgium are presented. Three groups of women who had amniocentesis performed because of advanced maternal age, a previous child with Down syndrome or a previous child with neural tube defect, respectively, were interviewed at home about their experiences. Anxiety feelings were different between groups but also showed considerable variation within each group. The overall psychological evaluation of the procedure was positive, so that the majority of the women would opt for amniocentesis in a subsequent pregnancy and would recommend it to others. Later follow‐up contact by mailed questionnaire revealed that almost all women elected for their subsequent pregnancies to be monitored by amniocente

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03437.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Congenital malformations involving the eyebrows are a rare phenomenon. Recently we have seen a case with partial duplication of the eyebrows and multiple other malformations. Because of the presence of close parental consanguinity, we believe this constellation of findings represents a new syndrome, possibly transmitted as an autosomal recessive disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb03438.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY