摘要:

For the first time, a translocation of a Y on a D chromosome has been shown in the males and females of the same family. The atypical aspect of a Dp+ made us aware of the possibility of a translocation of a Y on a D. This has been confirmed by autoradiographic study and fluorescent staining. The meiosis was arrested. The phenotypic effect is minimal.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00248.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Five independent families with a total of thirteen patients with hypoplastic left heart syndrome are presented. In all affected infants, the course of the disease was inexorably progressive and ultimately fatal. The pattern of transmission in the reported families is consistent with autosomal recessive inheritance. Consanguinity could be clearly demonstrated among the parents in three of the reported sibships.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00249.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A man with a unilateral colour vision defect is reported. The defect of his right eye can best be defined as lying between deuteranopia and extreme deuteranomaly. The left eye was unusual in that it gave a normal Rayleigh equation on the anomaloscope but abnormal readings, classical for red‐green defectives, with the Ishihara test plates. Two cousins and an uncle had bilateral colour vision defects closely resembling the defect from the right eye of the proband. Various explanations were sought for the findings, but ocular pathology, abnormal sex chromosome numbers, and mosaicism with Lyonization as well as somatic back mutation all seem to be unsatisfactory as such.Three other published cases of a unilateral colour vision defect, two in males and one in a female, are discussed, as is the presence of bilateral colour vision defects in one each of three presumably monozygotic female twin pair

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00250.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Mitotic chromosome damage was found in bone marrow cells but not in cultured lymphocytes or fibroblasts from a patient receiving methotrexate for treatment of psoriasis. No meiotic chromosome damage was detected in a testicular biopsy taken at the same time. These findings suggest that a full, definitive evaluation of human chromosome damage following drug exposure may require examination of several different tissues.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00251.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A suspension was made in isotonic Hanks solution of the contents of the tubules from a human testicular biopsy specimen. The germinal cells were sedimented by centrifugation and the supernatant was discarded. The cells were resuspended in hypotonic (0.42%) potassium chloride, left at 37oC for 20 minutes, then centrifuged again, and fixed in a mixture of 2 parts absolute methanol and 1 part glacial acetic acid. Air‐dried preparations were made from the final suspension and stained in Giemsa solution. This method is suitable for all the stages of male meiosis. Its main advantage lies in the property of KCl which avoids cell clumps and unpredictable failures presumably related to the formation of a coagulum in the cellular suspension. KCl has been used advantageously to prepare meiotic cells with improved spreading and staining of the chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00252.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Two different types of amino acid naphthylamidase isozymes, called A and B, are found in human cells culturedin vitroas well as in different human organs. The A isozyme is typical of cancer cell lines but is generally absent in fibroblastic cell strains where the B type isozymes are strongly represented. An analogous increase of the A isozyme was found in extracts of cells from lung and liver metastases of various carcinomas and in extracts of cells from primary carcinomas compared to normal cells. The results indicate that cancer cells differ from normal cells in the proportions of A and B amino acid naphthylamidase isozymes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00253.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

The results of biochemical and immunological characterization of five electrophorctic variants of human serum ceruloplasmin in Negroes are described. The variants were found to differ in the surface charge of the protein moeities of their molecules. No difference in their molecular weights could, however, be ascertained. The specific activities of the variants were strictly similar. Compared to the normal form CpB, CpA is more resistant and Cp Bpt is more susceptible to inhibition by either cyanide or azide of their oxidase activity while CpNH and CpA appear to resemble CpB in this regard. Citrate exerts uniform inhibition on all variants.Based on the differences in susceptibility to inhibition, the relative concentration of CpA to CpB protein in the CpAB heterozygote has been estimated to be 2:1. This may indicate that alleles at the ceruloplasmin locus (Cp) determine ceruloplasmin synthesis with different efficiencies. However, except for the Cp Bpt variant, the total level of ceruloplasmin protein in the serum appears to be regulated by a mechanism independent of the Cp phenotype and extrinsic to its structural genes.The objectives of these studies have been (A) to establish the distinctiveness of ceruloplasmin variants, (B) to provide means of identification and definition of new variants which may not differ electrophoretically from each other or from the variants already described, e.g. through differences in their inhibition profile, (C) to gather and assemble the necessary information to construct a model for control of quantitative expression of ceruloplasmin protein.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00254.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Meiotic chromosomes and testicular histology were analysed in two postpuberal males with Down's syndrome. Both patients had the karyotype 47,XY,G+ without evidence of mosaicism. Complete spermatogenesis was demonstrated in both patients with normal or near normal testicular morphology. Meiosis was regular with the presence of two cytologically distinct classes of primary spermatocytes at diakinesis and metaphase I. Cells with 23 and 24 meiotic chromosome bodies were recognized in both patients. Trivalents could be neither identified nor excluded. Primary spermatocytes with 23 chromosome elements may either contain the supernumerary G‐chromosome in a hidden, e.g. trivalent, state or they may be truly normal due to previous elimination of the extra chromosome. In cells with 24 chromosomes a univalent G‐chromosome was tentatively identified.The clinically observed subfertility or sterility in mongoloid males is probably explained by a multitude of contributory factors, chief among which are an impaired postmeiotic maturation process and the general unfitness consistent with Down's syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00255.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Previous work suggested that chromosomes 21 and 22 could be distinguished by fluorescent labelling of the chromosomes with quinacrine mustard (QM). This suggestion was confirmed in the present study of patients with Down's syndrome since it was found that in most cases three of the five G chromosomes had a clearly different distribution pattern from the remaining two. The pattern typical of chromosome 21 displays a particularly bright fluorescence in the middle of the long arm, whereas the fluorescence of chromosome 22 is less intense and more equally distributed along the length of the chromosome. Individual patterns of fluorescence have been observed in chromosome 21. Some of the implications of the findings are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00256.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY