摘要:

Members of two Australian families with type A Hereditary Angioedema (HAE), having affected individuals in three generations, were typed for a large number of genetic marker systems in a search for close linkage with the locus controlling CI inhibitor (CI inh). The evidence from both families indicated lack of close linkage with HLA or with the loci for Bf and GLO on chromosome 6. Very close linkage was also excluded between the locus for CI inh and the loci for 6PGD, PGM1and MNSs. The other markers were not informative, but data on all systems showing variation are reported. The publication of similar data for other kindreds will help to determine lod scores for the probability of linkage between the CI inh locus and loci controlling common protein polymorphisms. Linkage studies of this kind could establish whether the loci controlling type A and B HAE are identical or separate.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01343.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non‐sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non‐sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01344.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A spontaneous 21;21 translocation resulting in features consistent with Down syndrome is reported in the first born of male fraternal twins. No history of twinning or chromosomal abnormalities in the family was noted. Any association between dizygous twinning and Down syndrome due tode novotranslocation remains speculative until a sufficient pool of published data is available from study of such families.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01345.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Chromosome analysis of 51 married couples with repeated spontaneous abortions revealed a normal female karyotype in all wives, whereas 39 (76.5 %) husbands showed a normal Y chromosome, 10 (19.6 %) a Yq +, one (1.9 %) a Yqs and one (1.9 %) two Y chromosomes. The high incidence of Yq + found in this investigation correlates with previous reports and indicates that the risk of spontaneous abortions is increased when the male partner has a large Y chromosome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01346.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

This report describes some of the clinical, chromosomal and radiological findings in three unrelated patients with trisomy 8 mosaicism syndrome (T8ms), two first cousins with trisomy 8q and a patient with trisomy 8p. On the basis of the phenotypic and cytogenetic findings seen in our six patients and those noted in previous reports, we concur with Riccardi&Crandall (1978) that most physical malformations seen in T8ms are associated with trisomy for the long arm of chromosome 8.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01347.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A 12‐year‐old boy with unusual face and hearing loss was diagnosed as having frontometaphyseal dysplasia. He also had congenital urinary tract malformations and chronic urinary tract infection. The cranial and facial bones of the patient were studied by roentgen cephalometric analy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01348.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatoglyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits constitute the combination of dermatoglyphic patterns that is specific to trisomy 9p: an excess of arches on the fingertips and toes, a low total finger ridge count, the absence of digital triradii b and c, and the presence of zygodactylous triradii z, z‘ and z“, a simian crease, a single crease on the 5th finger, a hypothenar crease, a distally placed axial triradius t’, a proximal or tibial arch or both on the hallux, and increased intensity of the plantar patterns. A “phantom picture” is constructed, which can be used for dermatoglyphic diagnosis of the trisomy 9p

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01349.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Previously reported analyses on three different series of people suggested that fasting serum insulin levels are lower in males with (high levels of) serum Lp(a) lipoprotein (Lp(a +)) than in males without detectable Lp(a) lipoprotein (Lp(a —)). The same was observed during an oral glucose tolerance test. Also, blood glucose concentrations tended to be lower in males with high levels of Lp(a) lipoprotein than in those in whose serum no Lp(a) lipoprotein could be detected. In this paper, we present data which appear to confirm the previously reported results.A significant correlation was found between the fasting triglyceride level and the sum of insulin values determined during the oral glucose tolerance test in healthy Lp(a —) but not in Lp(a+) individuals.The present data, together with those previously reported on an effect of the Lp(a) locus on serum lipid levels and on propensity to contract coronary heart disease, indicate that the genetically determined Lp(a) lipoprotein may be of considerable clinical import

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01350.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Three pregnancies were monitored in two families at risk for mannosidosis. a mannosidase and a fucosidase were determined on extracts from white blood cells of several members of these families, on fibroblast cell lines from the index cases and on uncultured and cultured amniotic cells of the foetuses. Two foetuses were diagnosed as affected and one as being free from the disease. The conclusions were confirmed on the affected foetuses after interruption of the pregnancy. The noticeable residual activity of a mannosidase found in some fibroblasts and cultured amniotic cells required complementary investigations (heat lability and dependency of substrate concentration) to reach a reliable diagnosis. Investigation of uncultured amniotic cells may give useful additional information.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01351.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A new Sandwich‐Method is described which uses aborted material and yields a high frequency of metaphases. Chromosome studies may be performed after 7–8 days without sub‐culturing. It is possible to freeze the original tissue for later cell cu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01352.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY