Titlebook: Human Chromosomes; Orlando J. Miller,Eeva Therman Textbook 2001Latest edition Springer Science+Business Media, LLC, part of Springer Natur

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The Causes of Structural Aberrations,ired, reuniting at its original breakpoint, or it may interact with another DSB to produce a chromosome rearrangement. According to the classical model of DSB resolution, the two broken ends of an unrepaired DSB separate from each other, whereas the exchange model postulates that the chromatin of th

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Syndromes Due to Autosomal Deletions and Duplications,le phenotypes, these are called . or .. The same malformations, and even the same combination of malformations, or syndrome, may be caused by deletions involving two or more different chromosomes. (.) have worked out a chromosomal deletion map for 47 human malformations, based on the analysis of the

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Clinical Importance of Translocations, Inversions, and Insertions,ut 10 times more frequent in male infertility clinics than in the newborn population (.). RTs do attach to the sex vesicle (.), and this may lead to spreading of inactivation from the XY bivalent into the adjacent autosomal segment. The incidence of RTs is not increased in mentally retarded patient

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Sex Determination and the Y Chromosome,terochromatin. This makes up the distal half or so of the long arm and is visible by most C-banding procedures. It is especially bright by Q-banding, due to the AT-richness of its satellite DNA (Fig. 17.1). The Y chromosome contains some DNA sequences that are found only on the Y It is therefore pos

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The X Chromosome, Dosage Compensation, and X Inactivation,anding pattern (Fig. 17.1). In females, one X chromosome is condensed throughout interphase and is frequently visible in epithelial cells as a Barr body, or X heterochromatin. It is visible as a drumstick-shaped extrusion in 1–5% of polymorphonuclear white blood cells (Fig. 18.1a). The Barr body con