Titlebook: Human Chromosome Variation: Heteromorphism and Polymorphism; Herman E. Wyandt,Vijay S. Tonk Book 20121st edition Springer Science+Business

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Introductionent individuals”, is just one form of normal variation in the human genome. The terms heteromorphism, normal variant and polymorphism are often used interchangeably, and although there are subtle distinctions, all three usually refer to variations in the human karyotype or genome that are heritable.

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Book 20121st editions has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variat

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Chromosome 11rted this as a familial variant whose clinical significance is unknown. A third case of a large centromeric variant (Fig. 16.1b), ascertained prenatally, that was paternal in origin, and positive for alpha satellite D11Z1, is also know to us (Wyandt, Atlas of Human Chromosome Heteromorphisms, pp. 3–10, 2004).

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Chromosome 6tely 9% of subjects (Madan and Bruinsman, Clin Genet 15:193–197, 1979). C-band heteromorphism of chromosome 6 in several families was used to establish linkage of the HLA region to chromosome 6 (Polacek et al., Clin Genet 23:177–185, 1983).

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Chromosome 1e from less than 1/2 the size of 16p (level 1,) to more than twice the size of 16p (level 5). From the New Haven study (Lubs et al., Population cytogenetic studies in humans, 1977), 7.5% of children showed size variations by C-banding, 80% of which were . variants, and 20% of which were . variants (Fig. 6.2-1).

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Chromosome 7y be considerably higher. Two reported cases of maternal uniparental disomy with CF suggest their origin was due to a nullisomic sperm with maternal isodisomic rescue (Voss et al., Am J Hum Genet 45:373–380, 1989).

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Chromosome 9 C-negative band (Fig. 14.1j, k). More rarely, such C-negative bands can be quite striking and have been the object of considerable study (see Euchromatic Variants). The 9qh region is also strikingly stained by Giemsa-11 (Fig. 2.4) (Bobrow et al., Nature New Biol 238:122–124, 1972; Wyandt et al., Exp Cell Res 102:85–94, 1976).

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ot available elsewhere.Reference material is accessible only.Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a