摘要:

Co‐cultivation studies in different combinations have been carried out between cells which have been found to be positive for the fragile(X) (q27) and control cells. As no increase or decrease was discernible in the level of Fra(X) detected in ‘positive’ cells, and no fragility was introduced into the ‘negative’ cells, it was concluded that there had been no intercellular co‐operation, and a diffusible expression or suppression factor was n

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02036.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy). APECED is characterized by hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidosis, but none of its components is constant. Other endocrine deficiencies can occur as well and also dystrophy of dental enamel and nails. The proportion of affected siblings was 0.147 ± 0.034 (S.D.) when corrected for truncate single ascertainment, 0.246 ± 0.019 when corrected fora prioritruncate complete ascertainment and 0.240 ± 0.047 when corrected fora posterioritruncate complete ascertainment. The male/female ratio was 1.04. The results are compatible with autosomal recessive transmission. No heterozygous manifestations of the gene were found. The gene is enriched in isolated subpopulations in central and eastern Finland. APECED is part of the “Finnish heritage of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02037.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

This study was undertaken to test if the effect of lipid lowering diet on total serum cholesterol, is influenced by maximal low density lipoprotein (LDL) receptor activity.LDL receptor activity was determined in cultured skin fibroblasts from hypercholesterolemic, male subjects after lipid lowering diet intervention. The LDL receptor values from 15 subjects (responders) who had responded well to a lipid lowering diet and from 14 subjects (non‐responders) who had responded poorly, were compared. The responders had a reduction in total serum cholesterol of 29.4%, and the non‐responders had a reduction of 8.2% (p<0.0001). The higher values for LDL receptor activity among the responders did not reach statistical significance. For all 29 subjects there were non‐significant positive correlations between reductions in total serum cholesterol and values for association or degradation of125I‐LDL at 37°C (r = 0.16, p = 0.40 and r = 0.17, p = 0.38, respectively).Thus, it seems that maximal LDL receptor activity is not a major predictor for the response of lipid lowering diet on total serum cholesterol levels in hypercholesterolemic subjects without autosomal dominant familial hypercholest

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02038.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A variant of the enzyme fumarylacetoacetase (FAH) (E.C.3.7.1.2) in healthy individuals, determined by the enzyme activity, is reported. Analysis of family members of probands with low FAH activity suggests that the enzyme variant causing low activity could be the product of a pseudodeficiency gene. Assumed homozygotes for this gene have only slightly higher enzyme activity than patients with the metabolic disorder hereditary tyrosinemia I (hepatorenal type). No clinical abnormalities have been found in association with the postulated gene.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02039.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Three families in which relatives were concordant for upper limb terminal transverse defects are described. These families and previously reported ones with similar recurrence of terminal transverse defects are reviewed and analyzed. It is suggested that, at least in part, the patterns of relatedness for these recurrences more likely are the result of a genetic contribution to the development of this birth defect, rather than such recurrences being solely due to chance.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02040.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We report here four cases of unbalanced chromosomal rearrangements involving partial monosomies and trisomies of chromosome 7. The quantitative expression of diaphorase 2 (DIA‐2), beta‐glucuronidase (GUS‐β) and argino‐succinate‐lyase (ASL) were measured in these patients and compared with controls. The results suggest that the DIA‐2 locus is in the band 7p221→q21, the GUS‐βlocus in the band 7p22

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02041.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We report here four families with congenital contractural arachnodactyly (CCA) in which a wide range of phenotypic expression is observed. In one family with a large number of affected individuals the condition is mildly expressed. These individuals usually have crumpled ears, camptodactyly with ulnar deviation of the fingers, adducted thumbs, limited elbow and/or knee extension, and hypoplasia of the calf muscles. Arachnodactyly is not a constant feature. No spinal deformities are present and only the proband has clubfoot deformities. With time, affecteds have experienced spontaneous improvement of their contractures and their condition in adulthood has not interfered with a normal lifestyle. Within this family there is little phenotypic variation between affected individuals. Those affected within each of the other families have had varying degrees of severity of the condition. A review of 29 other kindreds described in the literature with congenital contractural arachnodactyly shows that in this condition the most common features are abnormally formed ears, camptodactyly, arachnodactyly, adducted thumbs, limited movement of the elbows and knees, and underdevelopment of the calf muscles. Spontaneous improvement of the contractures with age is reported in 94% of cases. Kyphosis, scoliosis or kyphoscoliosis occurred in 50% and these defects were present in those who where more severely affected with CCA. No ocular problems have been reported in this syndrome, but congenital heart defects have occurred in 14.7%. Marfan syndrome is the most important condition to differentiate from congenital contractural arachnodactyly since these two conditions are similar phenotypically. However, in the former there are frequently serious ocular and cardiovascular problems which lead to significant morbidity and/or early death.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02042.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The X‐linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations.The features of the FG syndrome are individually non‐specific. We emphasize that the characteristic combination of features is needed to avoid overdiagno

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02043.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

G banded chromosomal analysis of cells from a routine amniocentesis revealed a Y to X translocation in the fetus. The same unbalanced translocation was found in the mother who was disproportionately short. H‐Y antigen titers in the mother were intermediate and steroid sulfatase activity was in the normal female range. At birth the baby exhibited few dysmorphic features but appeared to have short limb

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02044.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho‐rhino‐phalangeal syndrome type II (TRP II) or Langer‐Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1.In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb02045.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY