摘要:

On the basis of the mucopolysaccharide content of cultured corneal and conjunctival fibroblasts and epithelia, corneal clouding reflected an increase in total cellular mucopolysaccharides. The genetic mucopolysaccharidoses could be divided into two groups on the basis of mucopolysaccharide content of both cultured skin and ocular fibroblasts: (1) If corneal clouding was a significant early clinical finding (Hurler and Scheie syndromes), the total mucopolysaccharide content of the cultured fibroblasts was markedly increased. (2) If there was a gradual appearance of corneal clouding later in life (Sanfilippo, Morquio and Maroteaux‐Lamy syndromes), the mucopolysaccharide content of the cultured fibroblasts was only slightly above normal values. The one exception was in the Hunter syndrome, in which corneal clouding did not occur; the mucopolysaccharide content of the cultured ocular fibroblasts was only slightly elevated, whereas that of the skin fibroblasts was markedly increase

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01114.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A syndrome of keratoconus, blue sclerae, middle ear bony conduction defect and spondylolisthesis occurring in a brother and sister born to consanguineous parents is described. Eleven similar cases reported in the literature are reviewed. The narrow range of phenotypic expression and the clcar pattern of heredity suggest that this is a distinct autosomal recessive disorder of connectivc tissue. It is postulated that the basic defect in this syndrome involves an alteration in the biosyntheis of collagen.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01115.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Chromosomal investigations were performed on fibroblast cultures established from tumour tissue of six patients with multiple basal cell carcinoma, and from one patient with a solitary basal cell carcinoma. In four instances, fibroblast cultures from specimens of unaffected skin areas Were examined simultaneously. Metaphases of peripheral blood lymphocytes were analysed in all patients. Three individuals showed increased rates of chromosomal breakage and rearrangement; the possibility of a relationship between these findings and the Occurrence of multiple basal cell carcinoma is discussed:1). The chromosomal aberrations noted in one patient with multiple arsenic‐induced basal cell carcinoma probably reflect the long‐term effect of exposure to arsenic.2). In the second case, the aberrations found in cultures from unaffected skin and blood lymphocytes may be due to repeated X‐ray therapy of multiple nevoid basal cell carcinoma3). In the third patient, likewise affected by multiple nevoid basal cell carcinoma, the etiology of the increased frequency of chromosomally altered cells remains obscure. Taken together with two other observations (Happle et al. 1971, Happle&Kupferschmid 1972), the aberrations could indicate that in some patients with nevoid basal cell carcinoma syndrome the incidence of spontaneous chromosomal breakage tends

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01116.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Two patients with congenital ring 13 chromosome abnormality as identified by tritiated thymidine autoradiography and Giemsa banding were heterozygous for the haptoglobin locus. The ring chromosome of one patient was appreciably smaller than those from which Hp deletion was claimed. Evidence for and against the presence of the haptoglobin locus on chromosome 13 and evidence favouring chromosome 16 as the site of this locus are reviewed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01117.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Extreme postnatal growth disturbance, loss of vision and hearing, atrophy of the skin and general cachexia are features of a syndrome observed in the only child of related normal parents The resemblance with Cockayne's syndrome is discusced.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01118.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

An infant with a pattern of malformations suggestive of the Meckel syndrome was born to consanguineous parents. Several of his relatives had congenital anomalies interpretable as incomplete expressions of the syndrome. Up to now the literature has paid little attention to this aspect of the Meckel syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01119.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Prenatal prediction of myotonic dystrophy (Dm) is feasible because Dm is closely linked to the secretor (Se) locus and the Se status of the. fetus can be determined by examination of the amniotic fluid. A pregiiant woman with Dm and her husband presented a favorable mating for prenatal diagnosis. A Se‐negative fetus would have been at high risk for Dm (92%, allowing for recombination). The fetus was found to he Se‐positive and pregnancy was not terminated. Overall, 37.5% of matings are potentially favorable for prenatal prediction by linkage. The affected parent must be heterozygous at the secretor locus; the spouse must he either se/se or potentially Se/se. Otherwise, prenatal diagnosis is impossible. Guidelines have been prepared for intrauterine prediction of myotonic dystrophy in matings of various Se genoty

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01120.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Twenty‐six primary and 21 secondary microcephalics were compared on the criteria of family and birth factors and clinical examinations. The two groups were similar in respect to their birthweights and parental ages at the time of birth. The group characteristics of primary microcrphalics that appear to be useful in distinguishing them from secondary cases are: (1) consanguinity in two of 13 families, (2) significantly increased number (18.9%) of pregnancy losses, (3) almost normal conditions of gestation, delivery and postnatal periods, (4) apparent microcephaly at birth in 50%, (5) relative absence of neurological problems, (6) relatively normal developmental milestones, and (7) increased frequency of subnormal intelligence in first degree relative

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01121.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A family with a C/G, probably 6/21, translocation chromosome was ascertained through a case of Down's syndrome. Genetic linkage analysis yields a possibility of localization of the Gm locus on autosome 6.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01122.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Three males with Turner‐phenotype have been studied. There were no indications of inheritance of the disorder. The group was too small and too selected to give any indication of whether there are any special characteristics of personality development in males with Turner‐phenotype. One patient was mentally retarded and the other two had intelligences in the lower part of the normal range. No eytogenetic aberrations were found, but it is concluded that further cytogenetic studies, using banding technique with analysis of chromosomes in a large number of cells, are needed in order to look for possible X or Y chromosome deletions or translocations to autosomes. Such deletions or translocations might explain the similarity with Turner's syndrome in females as well as the indications of inheritance of different types found by some authors and the lack of inheritance found by others and in the present st

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01123.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY