摘要:

There are many hereditary conditions in which benign or malignant tumour formation occurs as a principal feature. Two of these conditions are recessively inherited and in each case the lesions observed may be explained in terms of current knowledge of the action of the genes. The other conditions are all dominantly inherited, affect specific cell types, and have many general similarities. They include at least three of the phacomatoses as originally defined, and this term by extended to cover all such conditions. The theory that neoplastic lesions in these conditions are an effect of heterozygosity is discussed. The heterozygosity is believed to lead to the establishment of clones of cells which will undergo sequential somatic mutations. Selection for increased mitotic rate or cell survival within these clones will lead to benign or malignant tumour formation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02245.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Two kindreds are reported with autosomal dominant dystonia musculorum deformam. In each kindred there was one instance of non‐pcnetrance (tero expressivity) of the trait. The results of linkage studies with blood groups have been summarize

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02246.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Caspersson's method of labelling chromosomes with DNA‐binding fluorescent agents has been applied to the study of human chromosomes. Fluorescence distribution curves of normal metaphase chromosomes treated with quinacrine mustard (QM) were obtained by scanning transparent pictures of the labelled chromosomes in a Beckman Analytrol, an instrument normally used for scanning electrophoresis strips. Representative fluorescence distribution curves of the different chromosomes, as well as one complete “QM karyotype”, have been presented. The distribution curves of individual chromosomes appear to be characteristic and reproducible and it was concluded that the technique of fluorescent labelling holds great promise for identification of individual human chromosomes and chromosomal re

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02247.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Data on fifty‐three patients with 48, XXYY chromosome complement were collected from the literature and personal correspondence and reviewed with the objective of delineating a ‘uniform phenotype.’ Although no single stigma was found to be characteristic of the 48, XXYY males, tall stature, low upper segment/lower segment ratio, mental retardation, and behavior problems in a phenotypic male (including prepubertal age group) should raise the question of a 48, XXYY chromosome basic defect. In the majority of cases testicular biopsies revealed varying degrees of atrophy, levels of FSH were elevated, and 17 KS were low to normal, both characteristics being comparable to those found in 47, XXY males.Dermatoglyphic changes were found to be reduced total finger ridge count, increased frequency of arches on fingers, presence of a hypothenar pattern, distally placed triradius, and occasional qimian c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02248.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Contrary to carlicr results it is found thatβ‐naphtyl phosphate may be used as a substrate for red cell acid phosphatase and that thereby isozymes are revealed that do not appear with phenolphtha‐lein diphosphate as substrate. Qualitative differences between the zymograms with the two substrates are interpreted as being due to variation in substrate specificity between isozymes. Quantitatively, the enzymatic activity is of the same order as regards these two substrates. Previous unsuccessful attempts to obtain a zymogram with naphtyl phosphate are shown to be due to inhibition of the enzyme by diazonium s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02249.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Pedigree analysis of ichthyosiz vulgaris in an extensive North German kindred revealed X‐linked recessive inheritance. Only males were affected; heterozygous females had no sign of this derma‐tosis. Clinically and histologically, the disease resembled the autosomal dominant form. The differential diagnosis between this X‐linked recessive ichthyosis vulgaris, ichthyosiz congenita mitis, and X‐linked ichthyosis of the Wells‐Kerr type is discussed. We conclude from our qtudy that ichthyosis vulgariz is genetically hete

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02250.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Serum high density lipoprotein (HDL) from two patients with LCAT deficiency has been compared with HDL from normal subjects and HDL from a presumed heterozygous carrier. By two different immunological methods the concentration of ‐lipoprotein in serum of the patients was found to he about 25–30 % of the normal concentration.Patient HDL is cornpoked of two fractions, as shown previously. The first fraction contains particles of high molecular weight with an electrophoretic mobility slightly slower than that of normal HDL. The lipid content is 70%, and the concentrations of unesterified cholesterol and phospholipids are about 10–15 and 3–4 times that of normal HDL, respectively. The second fraction consists of particles of relatively low molecular weight with electrophoretic mobility faster than albumin. This fraction exhibits closc to normal concentrations of unesterified cholesterol and phospholipids. Esterified cholesterol or lysolccithin could he demonstrated in none of the fractions.HDL from the prewmed hetcrozygous carrier was normal as judged from immunoelectro‐phoresis, gel filtration, electron microscopy. and lipid

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02251.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

An algebraic language, called genex, for pedigree prohahility calculus is introduccd. and the basic techniques arc presented in an informal way (cf. Section 1.1). Probability distributions arc represented by so‐called generating expressions (Section 2.1), and the biological phenomena reSpOnSibk for random transmission of gcnes, etc. are I‐epresented by operators manipulating such generating expressions (Section 4). For the purpose of unarnbiguouy notation and correct handling of pedigree knowledge, the assumption concept is introduced (Section 5.2, 6.1), which allows the user to refer to smaller or larger pieces of information by a symbolic n

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02252.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

The amino acid composition of the serum low density lipoprotein (LDL) from three sisters with deficiency of the enzyme lecithin:cholesterol acyltransferase has been investigated. A slight increase in arginine, glutamic acid, and alanine was found in the LDL of the patients compared with the amounts of these amino acids in the LDL of five normal subjects.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02253.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Norrie's disease is a rare condition with a recessive sex‐linked mode of inheritance, blindness with progressive ocular degeneration, and mental retardation of varying severity. Deafness and epilepsy may occasionally occur.The findings in a 42‐year‐old, male, mentally retarded patient suffering from Norrie's disease are reported. His family tree is noted and the differential diagnosis of this condition is disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb02254.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY