摘要:

Clinical and cytogenetic studies of a six-year-old boy with multiple anomalies, including growth retardation, mild mental retardation, diffusely scattered minute areas of skin hypopigmentation, and skeletal abnormalities, are presented. Chromosomal analysis of lymphocytes, skin fibroblasts, and marrow cells showed a significant proportion of cells to have a tetraploid number of chromosomes. An extra 18 chromosome was present in approximately 10% of the cells from peripheral blood.

ISSN:1424-8581    

DOI:10.1159/000130150

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

An autosomally inherited condition is described in the mouse which causes genetic females to develop as phenotypic males. XX males are phenotypically normal with the exception of small testes, which, in the adult, are devoid of germ cells. During late fetal and early postnatal development, male-type germ cells are present but progressively become lost, so that none is present by 10 days of age. XO males are also phenotypically normal, but spermatogenesis is active in the testis, and spermatozoa are produced. Cytological evidence of a Y-autosome translocation was completely lacking, and it is proposed that an autosomal dominant gene mutation, analogous to that found in other mammalian species, is responsible for the sex reversal.

ISSN:1424-8581    

DOI:10.1159/000130151

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Quinacrine-fluorescence karyotypes were prepared on a series of human cell lines. WI-38 karyotypes were indistinguishable from those obtained from cultured XX blood leukocytes. WI-L2 lymphoblastoid cells were 46, XY and pseudodiploid, with a single chromosome 21 and an additional submetacentric marker whose short arm may have been derived from a No. 21. Three HeLa cell lines had several marker chromosomes in common. Three of these marker chromosomes were also present in a D98/AG line, which therefore must have been of HeLa cell origin. Another cell line of presumptive human origin was shown to be a contaminant, of mouse origin.

ISSN:1424-8581    

DOI:10.1159/000130152

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Three further cases of the recently discovered “trisomy-brachygnathia syndrome” in cattle have been described. The syndrome consists of autosomal trisomy, brachygnathia inferior, and, in some cases, malformations such as arthrogryposis, hydrocephalus, cryptorchism, and heart anomalies. An indication of the possible genetical etiology of the syndrome is given by the teratograms of the si

ISSN:1424-8581    

DOI:10.1159/000130153

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Metaphase spreads from male and female mice of various inbred and random-bred types were stained with the DNA-binding fluorochrome quinacrine mustard. This treatment caused the chromosomes to display cross-striation patterns of bright and dark bands visible with the fluorescence microscope. The intensity distribution of fluorescence along each chromosome was found to be distinctive and reproducible, so that it was possible to differentiate and identify all chromosome pairs in the mouse karyotype. On the average, the X chromosome was the fourth largest pair in female cells. The Y was usually the smallest chromosome and showed the strongest fluorescence. Densitometer tracing of fluorescent chromosomes resulted in distinctive density profiles which could assist in chromosome identification.

ISSN:1424-8581    

DOI:10.1159/000130154

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

In human leukocyte cultures, extensive chromosome changes (pulverization, uncoiling, or a combination of these) induced by UV-inactivated measles virus (fusion factor or FF) (1) were virus specific, (2) showed a quantitative relationship to virus dose, and (3) were dependent upon length of virus treatment. In contrast to the above-defined extensive chromosome changes, simple chromosomal breaks showed none of these properties and could be induced by cell debris alone at rates comparable to infectious virus or FF. These observations indicate that extensive and simple chromosomal changes are morphologically distinct and sequentially unrelated, constituting two different populations of aberrations. Analysis of extensive chromosome changes after different virus exposures suggested that uncoiling is not an early and less severe form of pulverization. Localization of chromosome breakage induced by both infectious virus and FF as well as cell debris and control (medium) treated cultures was nonrandom and statistically indistinguishable.

ISSN:1424-8581    

DOI:10.1159/000130155

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Two types of extensive chromosome changes (pulverization and uncoiling) as well as a combination of these phenomena in the same cell were induced by exposure to UV-inactivated measles virus (FF). The DNA-labeling patterns of these nuclear events were investigated. These types of extensive changes not only appeared to be morphologically distinguishable but also to be induced at different stages of the cell cycle. Pulverization occurred in very actively DNA-synthesizing cells. In contrast, G1, G2, or M cells were sensitive to uncoiling changes.

ISSN:1424-8581    

DOI:10.1159/000130156

出版商:S. Karger AG    

年代:1971

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000130157

出版商:S. Karger AG    

年代:1971

数据来源: Karger