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FIGURE 4-2. Selected photographs of Mendelian inherited disorders. (G)
Light micrograph shows a wide epiphyseal
growth plate where the chondrocytes in the zone of proliferation do not form neatly arranged stacks but instead are dis-
organized into irregular nests. (J) Light micrograph shows fibrosis of the endomysium (arrows) surrounding the individual
skeletal muscle cells. (K) Light micrograph shows the replacement of skeletal muscle cells by adipocytes (arrows) in the
later stages of the disorder, which causes pseudohypertrophy.
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FIGURE 10-1. Karyotypes and chromosomal morphology. (A)
G-banding of metaphase chromosomes with only minimal
separation of the sister chromatids are shown arranged in a karyotype. Chromosomes 1 through 3 consist of the largest
metacentric chromosomes. Chromosomes 4 and 5 are slightly smaller and submetacentric. Chromosomes 6 through12 are
arranged in order of decreasing size with the centromere moving from a metacentric position to a submetacentric posi-
tion. Chromosomes 13 through 15 are medium sized and acrocentric. Chromosomes 16 through18 are smaller and meta-
centric. Chromosomes 19 and 20 are even smaller and metacentric. Chromosomes 21 and 22 are the smallest chromo-
somes and acrocentric. The X chromosome is similar to chromosomes 6 through12. The Y chromosome is similar to
chromosomes 21 and 22. (B) Karyotype of Down syndrome. G-banding of metaphase chromosomes with only minimal sep-
aration of the sister chromatids are shown arranged in a karyotype. Note the three chromosomes 21 (circle). (C) FISH for
Down syndrome.
FISH using a probe for chromosome 21 (red dots) shows that each cell contains three red dots indicat-
ing trisomy 21. The green dots represent a control probe for chromosome 13. (D) FISH for sex determination. FISH using a
probes for the X chromosome (green) and the Y chromosome (red) shows that a cell that contain one green dot and one
red dot indicating the male sex. The two blue areas represent a control probe for chromosome 18. (E) Chromosome paint-
ing.
Chromosome painting using paints for chromosome 4 (green) and chromosome 14 (red) shows a chromosomal
rearrangement between chromosomes 4 and 14 (chromosome with green and red staining; arrow). (continued)
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FIGURE 10-1.
(Continued) (F) Spectral karyotyping of a chronic myelogenous leukemia cell line demonstrating a complex
karyotype with several structural and numerical chromosome aberrations. (F1)
A metaphase cell showing the G-banding
pattern. (F2) The same metaphase cell as in F1 showing the spectral display pattern. (F3) The same metaphase cell as in
F1 and F2 arranged as a karyotype and stained with the spectral karyotyping colors. Arrows indicate structural chromo-
some aberrations involving two or more different chromosomes. (G) Spectral karyotyping. Spectral karyotyping using
paints for chromosome 1 (yellow) and chromosome 11 (blue) shows a balanced reciprocal translocation between chro-
mosomes 1 and 11, t(1q11p). A balance translocation means that there is no loss of any chromosomal segment during the
translocation. This forms two derivative chromosomes each containing a segment of the other chromosome from the
reciprocal exchange. (H) Spectral karyotyping. Spectral karyotyping using paints for chromosome 4 (blue) and chromo-
some 12 (red) shows an unbalanced reciprocal translocation between chromosomes 4 and 12, t(4q12q). An unbalanced
translocation means that there is loss of a chromosomal segment during the translocation. In this case, the chromosomal
segment 12 is lost.
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FIGURE 16-1. Karyotype chaos in a cancer cell. (A)
Photograph shows a normal human karyotype. (B) Photograph shows
an abnormal human karyotype due to a mutation involving the RAD 17 checkpoint protein, which plays a role in the cell
cycle. This mutation results in a re-replication of already replicated DNA and an abnormal karyotype. (C) Spectral kary-
otyping (24-color chromosome painting) shows twelve chromosome translocations (t) and two isochromosomes in a
human urinary bladder carcinoma. See Color Plate.
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FIGURE 12-1. (A2) Glycogen storage disease type I (von Gierke). (A2)
Light micrograph of a liver biopsy shows hepato-
cytes with a pale, clear cytoplasm due to the large amounts of accumulated glycogen that is extracted during histological
processing. (B) Glycogen storage disease type V (McArdle). Light micrograph of a skeletal muscle biopsy shows muscle
cells with a pale, clear cytoplasm due to the large amounts of accumulated glycogen that is extracted during histological
processing. (F) Hemochromatosis. Light micrograph of a liver biopsy stained with Prussian blue shows hepatocytes with
a heavily stained cytoplasm to the large amounts of accumulated iron.
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