Karyotypic pattern

Briones, A.I., Ubeda, J., and Grando, M.S. 1996. Differentiation of Saccharomyces cerevisiae strains isolated from fermenting musts according to karyotype patterns. Int. J. Food Microbiol. 28, 369-377. 

Johansson B, Bardi G, Pandis N, et al. Karyotypic pattern of pancreatic adenocarcinomas correlates with strrvival and tu-motrr grade. Int J Cancer. 1994 58 8-13. 

Right The human karyotype/ a full set of chromosomes numbered according to size and content and showing characteristic banding patterns. The 22 autosomes plus either an X or Y chromosome make up the haploid set which, for the female, contains - 3,500 Mbp of DNA. Each diploid cell contains 46 chromosomes. From Alberts et at. 

Karyotyping has advanced dramatically since it was discovered that certain stains stain individual chromosomes in characteristic ways. Caspersson (Caspersson et al., 1970a,b, 1971) showed that quinacrine mustard and quinacrine dihydrochloride (Fig. 7.7) produced a characteristic banding pattern (Q-banding), and later it was found that complementary bands could be formed with Giesma (G-bands) if the chromosomes are treated first with trypsin or mild alkali (Patil et al., 1971 Seabright, 1971 Wang and Federoff, 1972). 

Molecular techniques have enabled the identification of up to six types of flor yeasts according to electrophoretic karyotype and mitochondrial DNA restriction patterns (Ibeas et al. 1997). However, yeast types distribute in a non-uniform manner... 

The most critical component for the study of metastasis is metastasizing cells. Since most people obtain their cells from cell culture, it is important to outline some of the criteria for the proper preparation and maintenance of those cultures. Details are omitted regarding verification of species of origin (karyotype, isozyme expression, etc.), tissue of origin (surface markers, enzyme expression patterns) and absence of opportunistic infections. It is presumed that such characterization will be done by readers of this volume before any... 

The answer is d. (Murray, pp 812—828. Scriver, pp 3-45. Sack, pp 57-84. Wilson, pp 123—148.) The case described represents one of the more common chromosomal causes of reproductive failure. Turner mosaicism. Turner s syndrome represents a pattern of anomalies including short stature, heart defects, and infertility. Turner s syndrome is often associated with a 45,X karyotype (monosomy X) in females, but mosaicism (i.e., two or more cell lines with different karyotypes in the same individual) is common. However, chimerism (i.e., two cell lines in an individual arising from different zygotes, such as fraternal twins who do not separate) is extremely rare. Trisomy refers to three copies of one chromosome, euploidy to a normal chromosome number, and monoploidy to one set of chromosomes (haploidy in humans). 

The answer is e. (Murray, pp 812-828. Scriver, pp 3-45. Sack, pp 57-84. Wilson, pp 123-148.) Children with chromosome abnormalities often exhibit poor growth (failure to thrive) and developmental delay with an abnormal facial appearance. This baby is too young for developmental assessment, but the catlike cry should provoke suspicion of cri-du-chat syndrome. Cri-du-chat syndrome is caused by deletion of the terminal short arm of chromosome 5 [46,XX,del(5p), also abbreviated as 5p—] as depicted in panel e. When a partial deletion or duplication like this one is found, the parents must be karyotyped to determine if one carries a balanced reciprocal translocation. The other karyotypes show (a) deletion of the short arm of chromosome 4 [46,XY,del(4p) or 4p—] (b) XYY syndrome (47,XYY) (c) deletion of the long arm of chromosome 13 [46,XX,del(13q) or 13q-] (d) Klinefelter s syndrome (47,XXY). Most disorders involving excess or deficient chromosome material produce a characteristic and recognizable phenotype (e.g., Down s, cri-du-chat, or Turner s syndrome). The deletion of 4p- (panel A) produces a pattern of abnormalities (syndrome) known as Wolf-Hirschhorn syndrome deletion of 13q- produces a 13q— syndrome (no eponym). The mechanism(s) by which imbalanced chromosome material produces a distinctive phenotype is completely unknown. 

Wilms tumor Triphasic blastemal, epithelial, and stromal components. Blastemal cells small, round or oval, in nodules or serpentine patterns. Epithelial component primitive rosette-like to tubular or papillary. Mesenchymal component fibrous, myoid, adipose, chondroid, osseous, neural. Blastemal vimentin, desmin. Epithelial cytokeratin. Mesenchymal variable according to differentiation pattern. Various abnormalities including mutations of WT1 at 11 pi 3 and WT2 at 11 pi 5 numeric and structural karyotypic abnormalities of chromosomes 1, 11, 13, 14, 16, 1 7, 19, and 22. 

Fig. 7-10 Hypothetical chromosome from the karyotype of a mammalian cell. The banding pattern comes from Giemsa staining.

Many of the studies of chromosome-banding patterns in birds have been aimed at understanding the evolution of the karyotype and the taxonomic... 

However, when Syrian (golden) hamster melanoma cells were fused with non-melanin-producing C3H mouse cells [104], and the hybrid line was isolated by the appropriate selection, no melanin production was observed in the hybrid cells, nor were tyrosinase and dopa oxidase activities detected in their extracts [104]. The parental melanoma cells had the enzymic activities and produced pigment. Nevertheless, in the hybrid cells, which possessed the expected hybrid karyotype, the lactate and malate dehydrogenase isozyme patterns were combinations of both parental types [104]. Thus, one might conclude that in the non-melanin-producing C3H parental cells there existed a specific diffusible enzyme... 

V Fig. 3-68. Normal male karyotype using a differential Giemsa banding stain. Each of the chromosome pairs has a distinctive pattern permitting specific chromosome identification. (From R. Sparkes)... 

Presently karyotypes of human metaphase chromosomes are used to detect genetic defects like deletions or translocations, where the chromosomes are treated by the trypsin-Giemsa protocol, to produce a typical banding pattern and imaged by optical microscopy. Because of the diffraction limit in optical microscopy, even the smallest visible band contains around 1 million base pairs. Improved resolution has been demonstrated using fluorescence NSOM on the treated chromosomes compared to conventional light microscopy. 

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