摘要:

Tests to demonstrate a preference by mosquitoes for stinging controls as opposed to obligate heterozygotes for Cystic Fibrosis proved negative. If a heterozygote advantage caused a lower malarial incidence in carriers in South West Africa, it must have worked through the malarial parasite being adversely affected by a serum factor. This remains to be tested.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00853.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A woman who had viremia and was given various drugs early in pregnancy gave birth to a cyclops with a normal karyotype.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00854.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Conservation of genetic linkage over long periods of time is exemplified. Comparisons are made between chromosomal regions in different species as well as within two species, man and the house mouse. Homologous regions are defined and the phenomenon of differential silencing of genes is described. The importance of conservation of particular sequences of genes is discussed in relation to medical genetics, animal breeding, evolutionary theory and genetic regulation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00855.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Anthropometric and cranial X‐ray measurements of 35 individuals with a 5p– karyotype showed a general growth retardation. Height, weight, circumference of the thorax, pelvic breadth, and the size of the skull, face, hands and feet were all subnormal. Only the inner canthal distance was moderately increased, especially in young individuals, but there was no true hypertelorism. The palate was not high‐arched. Large and small terminal deletions produced much the same anthropometric features; and the proband's sex did not have a major influence. Age variations within parameters examined followed the developmental pattern of normal individuals. A certain phenotypical variation in the Cri du Chat syndrome may therefore be attributed to normal changes or to intrapersonal condi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00856.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The linkage relationships of the locus for the Marfan Syndrome were investigated with 19 marker loci in 17 families. Close linkage with several marker loci was excluded. There was a suggestion of linkage between the locus for the Marfan Syndrome andRh.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00857.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

An epidemiological investigation of 231 cases of Down's Syndrome born in Western Australia between 1966 and 1976 confirmed the importance of congenital heart disease as a determinant of early mortality. An unexplained and hitherto unreported high incidence of Sudden Death in Infancy Syndrome in Down's Syndrome births was also found. Life tables presented, and comparison of survival rates with those of other investigators show, that mortality amongst cases of Down's Syndrome with no congenital heart defect has decreased and longevity is no longer a rare occurrence. As a result of these changes, and despite a demonstrable fall in the incidence of Down's Syndrome in Western Australia, the prevalence of the condition is expected to rise.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00858.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The possible phenotypic effect of chromosomal variants is as yet an unsolved problem. QM‐ and C‐banded chromosomes of 100 male patients with idiopathic mental retardation were compared with chromosomes of 100 Royal Military College cadets, as controls. Increased size of 9qh seems to be a factor with possible negative effects. 9qh– was found to be more common in the control sample. Another variant found more often in the retarded subjects was 16qh –. Increased frequencies of Yq+ or small inversions in chromosomes 3 and 9 were not found in the r

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00859.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine‐β‐hydroxylase (DBH) activity were examined in 22 patients at various clinical stages. Changes in both indices were closely linked to the progression of the illness; urinary excretion rates of catecholamines were first decreased in patients suffering from moderate autonomic dysfunction, while serum DBH activity was significantly reduced only in patients with far advanced disease. These findings suggested that patients with advanced disease might be suffering from a chronic deficiency of catecholamines in the peripheral sympathetic nerves. Administration of L‐dopa, however, failed to improve the clinical manifest

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00860.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

This report describes the clinical and investigative findings in a 31‐year‐old man with Hunter's syndrome, showing evidence of severe multisystem involvement. Papilloedema has been present for at least 8 years with no evidence of progressive visual impairment. His most serious and life‐threatening complications are laryngeal oedema and tracheal narrowing, which both compromise his respiratory function and constitute a major anaesthetic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00861.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00862.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY