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

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Euchromatic Variantsband negative and not generally anticipated to be variable in size or staining because they presumably contain genetic material. Euchromatic variants have become increasingly important at the molecular level where deletions and duplications occur as normal variants throughout the genome (see Copy Nu

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hemorrhage

Chromosome 3n humans, 1977; McKenzie and Lubs, Cytogenet Cell Genet 14:97–115, 1975). In the New Haven study of 7- and 8-year olds (Lubs et al., Population cytogenetic studies in humans, 1977), C-band polymorphisms of 3cen were found in approximately 10% of cases (Fig.?8.1b). Q-banding revealed additional varia

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ensemble

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Chromosome 7erally of no known clinical significance. Of interest, is one reported case (Fig.?12.1a) of uniparental disomy for a chromosome 7 with a cen+ heteromorphism that was maternal in origin (Voss et al., Am J Hum Genet 45:373–380, 1989). The 4-year-old son had cystic fibrosis (CF) and very short stature.

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PAGAN

Chromosome 10., Hum Genet 101:175–180, 1997) studied 33 families with a pericentric inversion of chromosome 10 and reviewed the literature for another 32 families. Of their own families, twenty one were ascertained through prenatal diagnosis and twelve were ascertained for a variety of reasons as were reported c

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Chromosome 11 duplication of the centromere in a fetus and a 39 year-old mother. The fetus had no obvious abnormalities. C- and G- banding suggested the variant chromosome was a pseudodicentric with inactivation of one centromere. A case with a large C-band positive, Q-band negative centromeric region of chromos