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Rarely, an individual is made up of several cell lines, each with different chromosome numbers. These individuals are referred to as mosaics or chimeras, depending on the sources of the cell lines. Such conditions can be the result of nondisjunction or chromosomal lagging during mitosis in the zygote or in nuclei in the early embryo (mosaic). This is demonstrated, again for sex chromosomes, in gure 8.19. A lagging chromosome is shown in gure 8.20; in the gure, the X chromosome is lost in one
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Table 8.1 Partial List of Terms to Describe Aneuploidy, Using Drosophila as an Example
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(Eight Chromosomes: X, X, 2, 2, 3, 3, 4, 4)
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Type Normal Monosomic Nullisomic Double monosomic Trisomic Tetrasomic Double trisomic Formula 2n 2n 2n 2n 2n 2n 2n 1 2 1 1 2 1 1 1 Number of Chromosomes 8 7 6 6 9 10 10 Example X, X, 2, 2, 3, 3, 4, 4 X, X, 2, 2, 3, 4, 4 X, X, 2, 2, 4, 4 X, X, 2, 3, 4, 4 X, X, 2, 2, 3, 3, 4, 4, 4 X, X, 2, 2, 3, 3, 3, 3, 4, 4 X, X, 2, 2, 2, 3, 3, 3, 4, 4
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Tamarin: Principles of Genetics, Seventh Edition
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II. Mendelism and the Chromosomal Theory
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8. Cytogenetics
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The McGraw Hill Companies, 2001
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Variation in Chromosome Number
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At meiosis I
XX YY
At meiosis II
of the dividing somatic cells, resulting in an XX cell line and an X0 cell line. In Drosophila, if this chromosomal lagging occurs early in development, an organism that is part male (X0) and part female (XX) develops. Figure 8.21 shows a fruit y in which chromosomal lagging has occurred at the one-cell stage, causing the y to be half male and half female. A mosaic of this type, involving male and female phenotypes, has a special name gynandromorph. (A hermaphrodite is an individual, not necessarily mosaic, with both male and female reproductive organs.) Many sex-chromosomal mosaics are known in humans, including XX/X, XY/X, XX/XY, and XXX/X. At least one case is known of a human XX/XY chimera that resulted from the fusion of two zygotes, one
Nondisjunction
XX XX
0 XY XX
YY 0 X0 XX
YY Normal YY
&X XXY XXX XYY (X (Y
At meiosis I
XX Figure 8.18
Results of fusion of a nondisjunction gamete (top) with a normal gamete (side).
XX X 0 XX XXY 0 YY or Y for X Y
At meiosis II
for Y XX XX
XX XX XX 0 X X XX XXX Figure 8.19 X X X
Nondisjunction of the sex chromosomes in Drosophila or human beings. 0 refers to the lack of sex chromosomes.
Mitotic nondisjunction of the sex chromosomes.
Tamarin: Principles of Genetics, Seventh Edition
II. Mendelism and the Chromosomal Theory
8. Cytogenetics
The McGraw Hill Companies, 2001
Eight
Cytogenetics
Metaphase
Anaphase
Telophase
XX Figure 8.20
Chromosomal lagging at mitosis in the X chromosomes of a female Drosophila.
Sex comb
Drosophila gynandromorph. The left side is wildtype XX female; the right side is X0 male, hemizygous for white eye and miniature wing.
In the standard system of nomenclature, a normal human chromosome complement is 46,XX for a female and 46,XY for a male.The total chromosome number appears rst, then the description of the sex chromosomes, and, nally, a description of autosomes if some autosomal anomaly is evident. For example, a male with an extra X chromosome would be 47,XXY. A female with a single X chromosome would be 45,X. Since all the autosomes are numbered, we describe their changes by referring to their addition ( ) or deletion ( ). For example, a female with trisomy 21 would be 47,XX, 21.The short arm of a chromosome is designated p, the longer arm, q. When a change in part of the chromosome occurs, a after the arm indicates an increase in the length of that arm, whereas a minus sign ( ) indicates a decrease in its length. For example, a translocation (t) that transfers part of the short arm of chromosome 9 to the short arm of chromosome 18 would be 46,XX, t(9p ;18p ). The semicolon indicates that both chromosomes kept their centromeres. Following are descriptions of viable human aneuploids who survive long enough after birth to have a named syndrome.
Trisomy 21 (Down Syndrome), 47,XX or XY, 21
formed by a sperm fertilizing an ovum and the other formed by a second sperm fertilizing a polar body of that ovum. Down syndrome ( gs. 8.22 and 8.23) affects about one in seven hundred live births. Most affected individuals are mildly to moderately mentally retarded and have congenital heart defects and a very high (1/100) risk of acute leukemia. They are usually short and have a broad, short skull; hyper exibility of joints; and excess skin on the back of the neck.The physician John Langdon Down rst described this syndrome in 1866. (Modern convention is to avoid the possessive form of a name in referring to a syndrome.) Down syndrome was the rst human syndrome attributed to a chromosomal disorder; J r me Lejeune, a physician in Paris, published this nding in
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