摘要:

An infant with craniostenosis and retardation was found to have giant satellites on chromosome No. 13. Trypsin-Giemsa banding studies demonstrated, in addition, a partially deleted short arm of chromosome No. 7. The chromosome analysis from the child was tentatively interpreted as 46,XX,t(7p–;13s+). The parents showed normal results from chromosome analysis, including normal Giemsa banding patterns and no giant satellites. The relationship of the karyotype to the child’s abnormalities is unknown. This study indicates the advisability of routine Giemsa banding techniques for the evaluation of karyotypes interpreted as normal or unresolved in the instance of pheno-typically abnormal patients and for the evaluation of karyotypes with “minor” chromosome v

ISSN:1424-8581    

DOI:10.1159/000130457

出版商:S. Karger AG    

年代:1973

数据来源: Karger

摘要:

In a previous work, we showed that various clones derived from an intra-species hybrid of Chinese hamster cells could differ in certain characteristics, particularly in that of transplantability. We performed a statistical analysis of the mode and variation in chromosome pairs with the aim of correlating these differences with the chromosomal constitution of these clones. The analysis of simple variance using chi square allowed us to follow the variations on different chromosome pairs within the same cell population and to test for significant differences between the clones. However, although the analysis of principal components allowed us to show a difference between two clones, we were not able to pin down the cancer factor on any particular chromosome. Nevertheless, we have been able to show that after passage in animals there is a selection of the tumor cells of low chromosome mode. This selection can also occur in vitro, but in this case subsequent passage in vivo does not produce any modification in the chromosome mode of the inoculated cells.

ISSN:1424-8581    

DOI:10.1159/000130458

出版商:S. Karger AG    

年代:1973

数据来源: Karger

摘要:

The centric fusion, or Robertsonian, type of translocation has been considered as a fusion of the entire long arms of two acrocentric chromosomes preceded by breakage of the centric heterochromatin. Reunion of the long arms is considered to include the centromeres, only one of which is visible by conventional staining methods. Prior to the development of the current banding techniques in human chromosome identification, the possibility that a centric fusion-like translocation might be the result of a reciprocal translocation was merely speculative. With the various banding techniques, we have identified two different types of 13/13 “centric fusion”-like translocation chromosomes with trisomy 13, i.e., one case of reciprocal translocation, 46,XX,–13,+t(13;13)(p12;q13), and one true case of centric fusion translocation, 46,XY,–13,+t(13;13)(p12;p12). In the first case, the unequal translocation of two No. 13 chromosomes was evident with the Q-and G-banding patterns; this patient also had a milder clinical manifestation of trisomy 13, since she was only partially trisomic for the long arm of No. 13. In the second case, the Q- and G-banding patterns revealed a symmetrical involvement of two No. 13 chromosomes in the translocation, and the C- and Q-banding techniques showed two distinct centromeres in the translocation chromosome. The latter patient demonstrated the typical trisomy 13 syndrome. The example of these two cases indicates that, with the current banding techniques, the true incidence of reciprocal translocations among so-called centric fusion types of translocations can be more accurately es

ISSN:1424-8581    

DOI:10.1159/000130459

出版商:S. Karger AG    

年代:1973

数据来源: Karger

摘要:

Cytogenetic analysis by R-banding and T-banding techniques demonstrated a pericentric inversion of chromosome No. 10 in a woman and a duplication-deficiency in her abnormal son. This “aneusomy by recombination,” which was compatible with a brief survival, is explained by the relatively distal position of the break points. Crossingover inside the large inverted segment produced an important duplication and a small deficie

ISSN:1424-8581    

DOI:10.1159/000130460

出版商:S. Karger AG    

年代:1973

数据来源: Karger

摘要:

The characteristic polymorphism of the paracentric secondary constriction region of chromosome 9 and its specific staining by a Giemsa banding technique allowed the unequivocal identification of the No. 9 in human male meiosis.

ISSN:1424-8581    

DOI:10.1159/000130461

出版商:S. Karger AG    

年代:1973

数据来源: Karger

摘要:

Each of the seven tobacco mouse metacentric chromosomes has been found to lead to nondisjunction when carried heterozygously with the house mouse acro-centrics, but the frequency is not the same for each chromosome. This was observed by screening metaphase II cells of males for aneuploidy and scoring zygotic loss among the progeny. The nondisjunction frequencies did not appear to be correlated either with chromosome size or centromere position. Considerable heterogeneity existed between individuals heterozygous for any one metacentric. Other abnormalities also were detected: some evidence of nondisjunction in metacentric homozygotes, small testis size and reduced sperm production among homozygotes, and crossover suppression between the metacentrics and the homologous acrocentrics in heterozygotes. It is concluded from these observations that a large part of the nondisjunction observed when the tobacco mouse metacentrics are carried heterozygously with the house mouse acrocentrics may result not from the structural heterozygosity per se but rather from other genie or minor chromosomal differences which reflect the fact that the chromosomes are derived from two different species. Linkage data which permit the assignment of linkage group (LG) VII to chromosome 11 and LG XVI to chromosome 12 are also presented. The location of the centromere in each LG is identified.

ISSN:1424-8581    

DOI:10.1159/000130462

出版商:S. Karger AG    

年代:1973

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000130463

出版商:S. Karger AG    

年代:1973

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000130464

出版商:S. Karger AG    

年代:1973

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000130465

出版商:S. Karger AG    

年代:1973

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000130466

出版商:S. Karger AG    

年代:1973

数据来源: Karger