摘要:

The Gardner syndrome is an autosomal dominant condition characterized by multiple polyposis of the colon, associated with various soft‐ and hard‐tissue tumors. Our original kindred, first reported in the early 1950's has been updated and serves as the basis for a discussion of the penetrance and expressivity of the gene responsible for the syndrome. The family consists of 188 members spread over six generations, with 28 individuals clearly documented as having the syndrome. Using two different methods of calculating penetrance, the responsible gene was found to be fully penetrant. This observation was confirmed by an analysis of 160 additional sibships from the literature. This estimation of penetrance is considerably higher than has been previously reported. The expressivity of the gene, however, is quite variable, and this is illustrated using examples from both our kindred and the literat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01332.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A family is described with infantile Blount's disease (tibia vara) following an autosomal dominant mode of inheritance. The bow legs in infancy of family members seem to improve with age, although the literature appears to imply that this is a progressive condition. It is speculated that infantile Blount's disease may be inherited as an autosomal dominant condition with variable penetrance, and that genetic factors have been noted only infrequently, as parents may have improved with age or have been affected only mildly.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01333.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The rate of sister chromatid exchanges per cell in Down synalome patients was not found to be different from that in controls.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01334.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A female patient with a gonodal mucinous cystadenoma on the right side and a gonado‐blastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic, This brings the total number of cases with dicentric Y chromosome reported to date to 23.Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the teste

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01335.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01336.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A family is reported in which eight members of one generation were affected by the syndrome hydrocephalus with aqueductal stenosis. With the exception of one child who lived for several weeks, they all died at or within 10 days of birth. Autopsy of a pair of affected twins showed marked stenosis of the aqueduct of Sylvius with fusion of the lamina quadrigemina. There were no signs of previous or present inflammatory changes or neo‐plasia. All the affected individuals were males, and the familial and pathological data presented support the concept that aqueductal stenosis in this family was due to an X‐linked gene, and may have a developmental ori

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01337.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Three cases, one with aglossia‐adactylia and two with aglossia, are presented, all of whom were born to consanguineous families. Although none of the cases had similarly affected sibs, the possibility of the autosomal recessive mode of inheritance might be taken into account in this syndrome. The dermatoglyphic findings in one previously reported patient showed great similarity to those of one of our case

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01338.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01339.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01340.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The interaction between the lipoprotein carrying the Lp(a) antigen, i.e. the Lp(a) lipoprotein, and agarose gels substituted with glycosaminoglycans, as well as the precipitation of the Lp(a) lipoprotein by Ca++were studied. Comparisons between Lp(a) lipoprotein and other serum lipoproteins were conducted.Very low density lipoprotein (VLDL) and low density lipoprotein (LDL) were bound to the tested glycosaminoglycans at a low ionic strength of sodium chloride, but no binding was found with the Lp(a) lipoprotein. However, Ca++as a divalent buffer cation gave a precipitating Ca++‐Lp(a) lipoprotein complex even at a physiological Ca++concentration. VLDL and LDL were not precipitated under these conditions. These findings may be of interest in relation to the previously reported higher frequency of the phenotype Lp(a+) in subjects with coronary heart diseas

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01341.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY