Download e-book for kindle: Chromosome Abnormalities and Genetic Counseling by R. J. McKinlay Gardner, Grant R. Sutherland

By R. J. McKinlay Gardner, Grant R. Sutherland

ISBN-10: 0195375335

ISBN-13: 9780195375336

Chromosome abnormalities were identified for over 50 years, although the equipment of study became expanding extra subtle and specific. unusually, the questions that oldsters and households elevate in genetic counseling have replaced little over that interval. Questions like, "Why did an abnormality occur? Why did it reason the issues we see in our baby? wouldn't it occur back in a destiny baby? How may we keep away from it occurring again?" are universal matters for families.

This new version of Chromosome Abnormalities and Genetic Counseling bargains with those common questions, and within the context of the hot advancements in molecular cytogenetic research, yet conserving regularly the most important specialize in the wishes of the households during which those stipulations happen. completely up-to-date once more, this richly-illustrated textual content combines uncomplicated options of chromosomal research with useful functions of modern advances in molecular cytogentics. The e-book will supply counselors the knowledge that might let them to aid involved mom and dad accommodate and adapt to their specific chromosomal demanding situations and to figure out what will be, for them, the simplest plan of action.

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Extra resources for Chromosome Abnormalities and Genetic Counseling

Example text

A particular use is to distinguish the inverted duplication 15 chromosome (p. 306) from other small marker chromosomes. 7. Fluorescence in situ hybridization (FISH) and variations thereupon. The major cytogenetic advance of the 1990s was the ability to identify specific chromosomes and parts of chromosomes by in situ hybridization with labeled probes. It is widely used to detect submicroscopic deletions and to characterize more obvious chromosome anomalies. The hybridization method may be direct or indirect.

Most of this pool gradually disappears, but those eggs destined to mature stay in a “frame-freeze” until they enter ovulation, some one to five decades thereafter, and meiosis recommences. Testicular stem cells, on the other hand, do not begin to enter meiosis until the onset of puberty. Thereafter, millions of mature sperm are continuously produced. We now examine more closely the details of meiosis. During the final mitotic division in the primary gametocyte, the homologous pairs of chromosomes have (as with any mitosis) replicated their DNA to change from the single-chromatid to the double-chromatid stage.

First, we look at etiology. We discuss three chromosomal settings within which genetic abnormality may arise, namely meiosis, mitosis, and genomic imprinting. Within each, we consider what types of abnormality may happen. In meiosis and mitosis, irregular segregation can produce aneuploidy for a whole chromosome, while asymmetric segregation of a structural rearrangement produces an incorrect amount of part of a chromosome (partial, or segmental aneuploidy). In genomic imprinting, the defect is qualitative, with abnormal expression of what can be a normal amount of chromosome.

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Chromosome Abnormalities and Genetic Counseling by R. J. McKinlay Gardner, Grant R. Sutherland


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