摘要:

We have examined a pedigree in which familial spastic paraplegia (FSP) is segregating in four generations. The data show a high rate of transmission of the trait, late onset, reduced penetrance, variable age and symptom expressivity, and an autosomal dominant mode of transmission. A summary of our data together with the FSP data of others shows a 1:1 transmission from males and from females, and an overall 1:1 transmission ratio. The risks for the children of symptomatic and non‐symptomatic parents are illustrate

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00659.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Forty‐two Japanese families, including 80 individuals with Werner's syndrome were studied, confirming that this syndrome is inherited as an autosomal recessive trait. The incidence of malignancy was relatively high in these families and individuals with Werner's syndrome, although the incidence was not so high as was reported previously. HLA typing revealed no significant linkage with Werner's syndrome. The frequency of Werner's syndrome in Japan was estimated using two methods which indicated approximately 300 cases among 100 million peopl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00660.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Sixteen pregnancies at risk for Gaucher disease ‐ six with the Norrbottnian form, one with a juvenile form with a similar clinical course to the patients from Norrbotten and nine with the infantile form ‐ have been monitored by the assay of β‐glucosidase activity in cultivated amniotic fluid cells with natural labelled glycosylceramide as substrate. Two methods of cultivation were compared in respect of their effect on the activity of lysosomal enzymes. No significant difference was found between the two marker enzymes, β‐galactosidase andN‐acetyl‐β‐glucosaminidase, but the β‐glucosidase activity was significantly higher in the cells cultivated with one of the methods. In four of the pregnancies at risk, the β‐glucosidase activity in the cultivated amniotic fluid cells was less than 5 % of that in the two control materials. These fetuses were regarded as affected with Gaucher disease and were aborted. Differentiation between controls and Gaucher heterozygotes was not possible in cultivated amniotic fluid cells. The diagnosis of Gaucher disease in the amniotic fluid cells was confirmed in three of the four cases by the assay of the β‐glucosidase activity in the liver and brain of the aborted fetuses. The glucosylceramide content of the liver from two aborted fetuses was not augmented. The β‐glucosidase activity was examined in seven placentas from pregnancies at risk for Gaucher disease and found to be in agreement with that in the cul

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00661.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The clinical and radiographic features of two sisters with a severe form of spondylocostal dysostosis (SCD) are described and depicted. Autosomal recessive inheritance is likely.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00662.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Human chromosomes, represented by band transition sequences, chromosome area, centromeric index by area and centromeric index by density, were karyotyped by computer. A reference set of chromosomes provided frequencies of occurrence of each density class and difference class of the band transition sequence as well as of each of the three global features. The karyotyping program was designed to handle all metaphases, even those from which severely bent and overlapped chromosomes were excluded. In one experiment, 21 metaphases were karyotyped on the basis of a reference set and the results were compared with earlier results of visual analysis of band transition profiles developed from band transition sequences: 0.8 % errors were made in the visual experiment and 1.4 % errors were made in the computer based experiment. In a second experiment, 179 metaphases were divided into reference and test sets and karyotyped by computer with an error rate of 3.4 %. By further analysis it was found that metaphases with many misclassified chromosomes could often be automatically distinguished from metaphases with few errors. Thus by automatic rejection of 7 % of the metaphases the error rate could be reduced to 2.6 %. The computer program for chromosome karyotyping will now be implemented in a semi‐automatic system for practical clinical chromosome analysi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00663.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

We report on the first case of trisomy 3 detected in the lymphocytes of a live‐born infant who died at the age of 5 months. A normal 46, XX karyotype was found in skin fibroblast cultures, which could account for the child's viability and lack of gross phenotypic malformation

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00664.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46, XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid‐facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic appearance and the phenotype of the patient, this may represent a partial 16 trisomy. Unlike most abnormalities of chromosome 16, this syndrome was compatible with lif

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00665.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A case with a prenatally diagnosed, additional metacentric chromosomal fragment is reported. Investigation of other family members showed that the fragment must be present in at least three generations. The pregnancy was continued and a healthy girl was born.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00666.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

A series of three infants with achondrogenesis, all born to the same mother, are reported. The third case was diagnosedin utero.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00667.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum CPK assays, morphological examination of a muscle biopsy (including light‐microscopy, histochemistry and electron‐microscopy), or by ultrastructural examination of a skin biopsy. Heterozygotes could be identified to a large, but still limited extent, by measuring the acid α‐glucosidase activity in urine, cultivated fibroblasts, leucocytes, or skeletal muscle. Heterozygotes for the generalized form of AMD could not be distinguished from those for the muscular form. The limitations of heterozygote identification by means of enzyme assays are discussed, and some practical aspects for genetic counselling are men

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00668.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY