摘要:

Cytological and histological characteristics of normal and freemartin gonads have been studied in 45-, 60-, and 90-day bovine fetuses during gonadotropin-induced multiple pregnancy. In both sexes of 45-day fetuses the second proliferation of germinal epithelium was not developed whereas the primary tunica albuginea was well developed. Fetal testes showed higher cell activity than fetal ovaries. Mitotic activity seemed slower in 60-day freemartin gonads than in normal fetal ovaries. The chromosomal stages prophase, metaphase, anaphase and telophase corresponding to oogonia were less numerous than in normal fetal ovaries. The cytological appearance of freemartin gonads in 60-day fetuses was unaffected by the ratio of male: female fetuses. The freemartin gonad was characterized by an irregular distribution of cortex and primary tunica albuginea. In the ovaries of 90-day fetuses the last chromosomal stage observed in the oocytes was the pachytene stage. The first establishment of primordial follicles was observed.

ISSN:1424-8581    

DOI:10.1159/000129810

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

A 4 10/12 year old girl with mental defect and multiple minor congenital anomalies was found to have a deletion of the short arm of chromosome 18. Limited investigation for loss of an allele did not reveal such a loss. Comparison of the phenotype of this patient with that of other patients with apparently identical cytogenetic abnormalities suggests a wide spectrum of variability in phenotype. Evidence suggests that the abnormal chromosome might not be a true telocentric chromosome.

ISSN:1424-8581    

DOI:10.1159/000129811

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

A sterile male had slightly hypoplastic penis and testes but no other clinical symptoms of abnormal sexual development. An apparently normal female karyotype was observed in cultures from peripheral blood, skin and both testes. The Sertoli cells in both testes were shown to be sex chromatin negative, whereas all other cells examined were sex chromatin positive. The findings are discussed.

ISSN:1424-8581    

DOI:10.1159/000129812

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

A girl aged 9 months with clinical symptoms of Down’s syndrome had 47 chromosomes in preparations from peripheral blood leucocytes. An unusual karyotype was found with abnormal distributions of chromosomes in the following groups: C:17, D:5, F:3 and G:6. The interpretation of the karyotype is based on the assumption that there is a simultaneous occurrence of trisomy in group G and a translocation between chromosomes of group D and F. The mechanism to which these deviations are attributable is discussed. A causal relationship between trisomy and translocation is suggeste

ISSN:1424-8581    

DOI:10.1159/000129813

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

It is known that irradiated individuals show persistent chromosomal damages and are at greater risk of developing leukemia. In the case reported here, chronic myelogenous leukemia was diagnosed in a man three years after irradiation for surgically removed bronchogenic carcinoma. The Philadelphia chromosome was found in blood metaphases. Chromosome alterations were present in four parallel cultures of a skin biopsy taken from the site of previous irradiation. All 122 karyotyped metaphases were abnormal although their mode was diploid or near diploid or in the range of 4n for the relatively frequent polyploid cells. In this material marker chromosomes permitted the sorting of cells within five stemlines. One of the marker chromosomes in skin metaphases had the features of the Philadelphia chromosome, showing satellites and acrocentric association, although it may have arisen from any of the ten satellite acrocentric chromosomes. As a rule, studies of X-ray induced damages to blood cells in non-leukemic man have not indicated clonal perpetuation of chromosome anomalies. This case suggests that clonal evolution may have been part of regenerative processes stemming from radiation-modified survivor cells in solid tissue.

ISSN:1424-8581    

DOI:10.1159/000129814

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

A developmentally retarded 21/2 year old male with seizures and spasticity has been found to carry only the larger product of a reciprocal translocation between the long arms of No. 18 and a 13–15 group chromosome. The absence of a smaller reciprocal of the translocation suggests that the deletions of the two involved chromosomes are the cause of the phenotypic abnormalities. The report includes dermatoglyphic analysis and blood groups, haptoglobins, Gc types and transferrins of the child and his parent

ISSN:1424-8581    

DOI:10.1159/000129815

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

Anatomical and histopathological study of the developmental malformation in two cases of D1(13–15) trisomy has shown that a relation appears to exist between the additional chromosome and the malformations which characterize this trisomy. The excess chromosomal material appears to be directly responsible for the duplications (kidneys, Müllerian duct derivatives, fingers and toes) and excess tissue (supernumerary lobulations of liver, pancreas, lungs and kidneys) frequently found in this trisomy. The induced excess tissue may be basically abnormal or it may provoke an imbalance between it and the surrounding normal tissue, resulting in focal morphologic abnormalities in the structure of the tissue (liver, pancreas, kidneys). In addition, there are malformations (e.g. the skeletal abnormalities of the skull and face) which are better interpreted as the result of a series of secondary anomalies which had their origin in alterations occurring early in embryonic life. The cytogenetic disturbance responsible for the trisomy is better explained as a postzygotic nondisjunction, one daughter cell receiving 45 chromosomes. The presence of the additional chromosome in the surviving cell may explain the frequent occurrence of “situs inversus solitus” in this trisomy, a phenomenon known to occur in association with monozygous tw

ISSN:1424-8581    

DOI:10.1159/000129816

出版商:S. Karger AG    

年代:1964

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000129817

出版商:S. Karger AG    

年代:1964

数据来源: Karger