ISSN:1424-8581    

DOI:10.1159/000129826

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

Clinical and chromosomal studies are reported for 30 female patients selected because they show at least one of the characteristic features of Turner’s syndrome. Exploratory laparotomy has been performed in eight patients, and culdoscopy in two others. Seven patients have an XO sex chromosome constitution, eight have XO/XX mosaicism, two have probable XO/XX/XXX mosai-cism, one has XX1, five have XO/XXi mosaicism, one has a presumptive deletion of the long arm of an X chromosome, two have small structural X or Y chromosome aberrations, one has XO/XY mosaicism and three have an apparently normal XX karyotype. Xg grouping in one XO patient and her parents reveals that the X chromosome may be maternally derived, and similar studies in one X isochromosome-X patient suggest that the isochromosome-X may be paternally derived. Parental age was found to be normal. Sex chromatin findings in the patients with an isochromosome-X, and in a patient with an X-deletion, confirm that the structurally abnormal X forms the sex chromatin body. Karyotype-phenotype correlations in these, and in previously reported patients, support the hypothesis that the usual cause of Turner’s syndrome and its variants is variable deficiency of the X and Y chromosomes, due both to mosaicism and to deletion involving postulated homologous loci. “Streak” gonads are the usual consequence of a large deficiency of any part of the X, but the marked short stature and associated stigmaa of Turner’s syndrome are only observed in cases where the deficiency includes the short arm of the X (including the pairing segment) or part of the Y. The karyotype-phenotype correlations support the concept that a part of the short arm of both X chromosomes is genetically active in human female soma

ISSN:1424-8581    

DOI:10.1159/000129827

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

Peripheral blood smears of 20 male and 20 female tamarins were examined for the presence of the nuclear drumstick appendage in neutrophils. This chromatin body characteristic of female cells was found in significant numbers of neutrophils from males and in some females was found to be absent or in a lower frequency than expected. The distribution of drumstick-bearing neutrophils among these animals was such that they suggested male-female blood chimerism resulting from prenatal vascular placental anastomoses between fraternal twins of this species. Heterosexual chimerism was confirmed by sex-chromosome analyses of tissues from both male and female animals. The drumstick marker, however, did not provide a reliable quantitative index of chimerism as determined by sex-chromosome analysis. Chimerism was found in blood, bone-marrow, lymph-node, and splenic tissue indicating intermixing of the hematopoietic systems of fraternal twins. A new micromethod utilizing an in vivo diffusion chamber for the procurement of mitotic cells for chromosome spreads was described.

ISSN:1424-8581    

DOI:10.1159/000129828

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

Cytogenetic studies of one malignant and five benign human thyroid tumors grown in tissue culture are presented. In a follicular adenocarcinoma, a hyperdiploid stemline with supernumerary chromosomes in all groups was found. Abnormal chromosomes were not seen. In four of the adenomas studied, most of the cells had a normal chromosome complement. A history of prior x-irradiation to the face and neck was obtained from a fifty-four-year-old patient with a histologically benign microfollicular adenoma. Almost all of the cells had 46 chromosomes, but only a few had a normal karyo-type. The majority had a pseudodiploid chromosome complement due to either loss or acquisition of members of various groups, or the presence of abnormal chromosomes of varying size and configuration.

ISSN:1424-8581    

DOI:10.1159/000129829

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

A Saanen goat registered as female was found to have a pair of abdominal testes, a well developed uterus and a prominent clitoris. The chromosome features of peripheral leukocytes and the nuclear sex chromatin pattern of lymphocytes and testicular cells conformed to those of a cytological female. The testicular tissue showed all stages of meiosis and fully formed sperm indicating normal spermatogenesis. The anatomical and cytological features of this goat are compared with those of human intersexes and hermaphrodites previously reported and the disparity between the gonadal and cytological sex in this goat is discussed.

ISSN:1424-8581    

DOI:10.1159/000129830

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

A sex chromatin positive woman has stunted growth, primary amenor-rhoea, cubitus valgus, Madelung’s deformity and mental deficiency. A modal chromosome number of 46 was found in cultures from peripheral blood, skin and Fascia lata, but an abnormal very large metacentric chromosome and only 15 chromosomes in the X-6–12 group were observed in karyotypes from cells of all cultures. Large and characteristic bipartite bodies were often present in buccal and vaginal smears, and the size of the polymorphonuclear drumsticks was increased. Autoradiographically the abnormal chromosome was the only “hot” chromosome. The patient was Xga negative although her father was Xga positive. We conclude that the unpaired large chromosome in our patient is an abnormal X chromosome with a partial deletion and a translocation of a piece of an autosome or sex chromosome onto its sh

ISSN:1424-8581    

DOI:10.1159/000129831

出版商:S. Karger AG    

年代:1964

数据来源: Karger

摘要:

An abnormal small acrocentric chromosome with enlarged short arm was found in a mother, grandfather and child, the latter with Down’s syndrome. It is probable that the chromosome originated by a mutational event in the sex cells of one of the great-grandparents as it was present in only one out of their seven children. Data are given on blood and serum types and the linkage information they provide. The nature and significance of the chromosome is discussed and it is concluded that the most likely explanation of the abnormality is heritable alteration of coiling and condensatio

ISSN:1424-8581    

DOI:10.1159/000129832

出版商:S. Karger AG    

年代:1964

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000129833

出版商:S. Karger AG    

年代:1964

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000129835

出版商:S. Karger AG    

年代:1964

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000129836

出版商:S. Karger AG    

年代:1964

数据来源: Karger