Electronic data processing in the Danish Cytogenetic Central Register and EDP problems of registers in general

A brief introduction to the Danish Cytogenetic Central Register (DCCR) is given, and possibilities, principles and problems concerning the establishment and maintenance of a national cytogenetic register are presented.
Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR.
The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing.
Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented.     

Genome size, karyotype, meiosis and a novel extra chromosome in Torenia fournieri, T. baillonii and their hybrid

Torenia is a suitable model plant to study plant fertilization because of its protruding embryo sac. However, information on the genomes and chromosomes of this species is limited. We determined the genome sizes of T. fournieri Linden and T. baillonii Godefr as 1.71 pg × 10⁸ bp and 1.67 × 10⁸ bp, respectively. The small genome size of these species suggests their superiority as the targets for molecular cloning studies. Furthermore, karyotypes of T. fournieri and T. baillonii were determined using FISH probed with 5S rDNA, 45S rDNA and species-specific centromere repetitive sequences. Although the two species have similar genome size, number of chromosomes, centromere repeats and 5S rDNA loci were varied. Observation of meiosis in the F₁ hybrid revealed that all chromosomes except one of T. fournieri paired well with the chromosomes of T. baillonii throughout the entire length of the chromosomes including species-specific centromeric regions. One exceptional chromosome of T. fournieri behaved as a univalent and was not always required for gametogenesis. The present results provide the basis for the molecular genetics in Torenia.     

Inflammatory myofibroblastic tumour (inflammatory pseudotumour) of the breast. Clinicopathological and genetic analysis of a case with evidence for clonality.

Inflammatory myofibroblastic tumours (IMTs) were initially considered to be benign reactive processes, but cases with an unfavourable outcome have been reported. Moreover, clonal genetic alterations have recently been published in some cases, suggesting that IMT may represent a malignant neoplastic entity. This paper reports a case of IMT that developed in the mammary gland, an unusual site. The histological picture was characterized by a proliferation of spindle cells with little cellular atypia and rare mitoses, associated with a polymorphous inflammatory infiltrate. Their immunophenotype, characterized by the expression of vimentin, smooth muscle actin, and cytokeratins, corresponded to that of myofibroblasts. Cytogenetic analysis revealed the clonal nature of the lesion. The modal karyotype was 48, X, ins(2;X)(q34;p21.2p22.2), +7, del(9)(p23), +19. Including the present observation, a 9p deletion has now been found in three cases of IMT. These observations show that IMT may be a clonal neoplasm, even in sites different from deep soft tissues.     

The chromosome complement ofAcomys spp. (Rodentia,Muridae) from Oursi,Burkina Faso—the ancestral karyotype of thecahirinus-dimidiatus group?

We present here data on chromosome banding analysis (R- and C-bands) ofAcomys sp. (Rodentia, Muridae) from Oursi, Burkina Faso, characterized by 2n=FN=68 and comparison of its banding patterns with those ofAcomys dimidiatus from Saudi Arabia (2n=38, FN=70), studied previously. The study revealed complete homology between acrocentric chromosomes ofAcomys sp. and chromosome arms of 16 pairs of metacentric and two pairs of acrocentric chromosomes ofA. dimidiatus. In addition to monobrachial homology, one tandem translocation accompanied by a centromeric shift was identified in the karyotype of the latter species. The data obtained show that karyotypes of all the species of theAcomys cahirinus-dimidiatus group studied previously may be derived from that ofAcomys sp. from Oursi by means of numerous non-homologous Rb translocations and 1–2 tandem translocations, and thus its karyotype may be considered as ancestral for thecahirinus-dimidiatus group.accepted for publication by M. Schmid     

Klinefelter 综合征的临床与细胞遗传学分析

分析和探讨Klinefelter综合征的，临床以及细胞遗传学特征，通过遗传咨询和染色体核型综合分析进行疾病的诊断。确诊Klinefelter综合征88例，年龄13天-48岁，其中〈1岁3例，占3．4％；1～12岁11例，占12．5％；13～18岁6例，占6．8％；〉18岁68例，占77．3％。睾丸小是Klinefelter综合征最典型的表现。青春发动期以前难以发现。核型为47，XXY（包括变异）77例，占87．5％；嵌合型8例，占9．1％；48，XXYY2例，占2．3％；49，XXXXY1例，占1．1％，细胞遗传学染色体核型分析为确诊的主要手段。     

Genetic analysis of males from intracytoplasmic sperm injection couples

A total of 392 men referred for intracytoplasmic sperm injection (ICSI) participated in genetic analysis. The control group consisted of 100 normal fertile males. Chromosome and DNA analyses were performed to investigate the frequency of Y-chromosome microdeletions and CFTR mutations (the controls underwent DNA analysis only). An abnormal karyotype was found in 4.6% of all males, but the frequency among men with azoospermia was higher, at 11.7%. Y-chromosome microdeletions were found only among men with azoospermia (6.5%) and men with extreme oligospermia (2%). Compound heterozygosity for CFTR mutations was found in men with azoospermia (3.9%) and congenital bilateral absence of vas deferens (CBAVD) only. We conclude that all couples referred for ICSI should be offered chromosome analysis. DNA analysis for Y-chromosome microdeletions should be reserved for men with azoospermia or extreme oligospermia (<1 x 106 spermatozoa). Analysis for CFTR mutations should be limited to those with obstructive azoospermia or those with a family history of cystic fibrosis.     

130例遗传咨询者细胞遗传学分析

目的:探讨核型分析对染色体病的诊断价值,及染色体多态变异与异常妊娠及原发不育的关系。方法:对130例遗传咨询者进行常规外周血淋巴细胞培养,并对异常核型及染色体多态变异进行分析。结果:发现异常核型15例,异常核型检出率为11.54%。其中常染色体数目异常9例,结构异常4例,性染色体数目异常2例。发现染色体多态变异8例。结论:染色体异常是自然流产、死胎及儿童智能低下的重要原因,应引起临床医学工作者的高度重视。     

鬼针草的细胞学研究

报道了鬼针草的核型公式:K(2n)=3X=36=27m+3sm+6sm(SAT),染色体相对长度组成:2n=36=6L+9M₂+18M₁+3S,核型为“2A”型,同时计算了鬼针草的染色体体积。     

34例智力低下及畸形儿的染色体核型分析

先天性智力低下及畸形是进行染色体检查的适应症。本文对３４例智力低下和畸形的患儿做了染色体核型分析,发现染色体异常为１０例,占受检者的２９．４％,２１三体占异常染色体的６０％,其他还有２２三体,４７ＸＹＹ以及嵌合型等等,为临床的诊断和治疗提供了准确依据。     

Mapping translocation breakpoints by orthogonal field agarose-gel electrophoresis

Orthogonal field agarose-gel electrophoresis (OFAGE) of chromosomes from translocation-bearing and normalNeurospora crassa strains was utilized, first, to recover cosmids from a translocated region, and second, to map translocation breakpoints. Surprisingly, the right breakpoints in two independently derived, interstitial translocations,T(II III) AR18 andT(II VI)P2869, are within about 5.6 kbp of each other suggesting that this region of linkage group (LG) II may be fragile or otherwise subject to chromosome breakage. Mapping translocation breakpoints through OFAGE, or other similar methods, should allow for DNA sequencing across breakpoints that are not associated with mutant phenotypes or that are not within walking distance of cloned markers.