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Color Plates

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Color Plate 1

Clinical features of xeroderma pigmentosum (XP). (A) The disease typically presents with severe pigmentary disturbances on the Sun-exposed areas of the skin. (B) Note that areas not normally exposed to sunlight are not affected. (C) These clinical features can present at a very early age. (D) The eyes are also frequently affected. The individual shown here has clouding of the cornea and atrophy and loss of lashes from the lower eyelid. (Reproduced with permission from K. H. Kraemer. Progressive degenerative diseases associated with defective DNA repair: xeroderma pigmentosum and ataxia telangiectasia, p. 37–71. W. W. Nichols and D. G. Murphy [ed.], Symposia Specialists, Miami, Fla., 1977.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Color Plate 2

(A) Individuals with Cockayne syndrome have arrested growth and development, resulting in a dwarfed appearance. The sunken eyes and disproportionately long arms and legs are also very characteristic. (Courtesy of James German.) (B) Individuals with Cockayne syndrome frequently suffer contractions and profound cachexia. (Courtesy of K. H. Kraemer.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Color Plate 3

(A) The patient on the left suffers from combined xeroderma pigmentosum/Cockayne syndrome (XP/CS). Note how short she is relative to her mother, who is of normal height. (B) The same patient manifests the bird-like facies of CS and the pigmentary disturbances of the skin observed in XP. (Courtesy of K. H. Kraemer.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Color Plate 4

(A and B) Frontal and side views of the face of a young boy with trichothiodystrophy (TTD). Note the sparse broken scalp hair, eyebrows, and eyelashes, the thickened epicanthal folds, the protruding ears, and the receding chin. (C) View of the trunk of the same patient. Note the large ichthyotic (fish-like) scales on the anterior part of the trunk and the atopic eczema in the armpits. (Reproduced with permission from V. H. Price, R. B. Odom, W. H. Ward, and F. T. Jones. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. 166:1375–1384, 1980. Photographs courtesy of V. Price.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Color Plate 5

Some of the clinical features of ataxia telangiectasia (AT). (A) The conjunctiva of the eye of an individual showing telangiectasia (abnormal dilation of blood vessels). (B) This 22-year-old patient has severe ataxia and is wheelchair bound. (Reproduced with permission from K. H. Kraemer. Progressive degenerative diseases associated with defective DNA repair: xeroderma pigmentosum and ataxia telangiectasia, p. 37–71. W. W. Nichols and D. G. Murphy [ed.], Symposia Specialists, Miami, Fla., 1977.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Download as Powerpoint
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Color Plate 6

A patient with Seckel syndrome. (A and B) The patient exhibits the protruding nose, microcephaly, and bird-like facies typical of this disorder. (C) The patient with his mother, emphasizing the proportional dwarfism associated with this condition. (Images kindly provided by Judith Goodship and Mark O’Driscoll. Panel A reproduced with permission from J. Goodship, H. Gill, J. Carter, A. Jackson, M. Splitt, and M. Wright. Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24. 67:498–503, 2000.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Color Plate 7

(A) Patients with Bloom’s syndrome (BS) typically have a butterfly distribution of light-induced capillary dilatation of the skin of the face. (B) BS patients also exhibit growth delay, as illustrated in this photograph where the patient is shown next to his much larger unaffected sibling. (Photographs courtesy of James German.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Download as Powerpoint
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Color Plate 8

Typical clinical features of patients with Werner syndrome. (A and B) The same patient at ages 15 (A) and 48 (B), respectively, dramatically illustrating the premature-aging characteristics of the disease. (C) Patient with initial alopecia and ocular complications. (Photographs courtesy of George Martin and Nancy Hansen, University of Washington, Seattle.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Download as Powerpoint
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Color Plate 9

Some clinical features of Rothmund-Thomson syndrome. (A) The classic rash seen on the cheeks and extremities (sparing the trunk/abdomen). (B and C) The radial-ray defect common to this disorder. (Photographs kindly provided by Lisa L. Wand, Baylor College of Medicine, Houston, Tex.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Download as Powerpoint
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Color Plate 10

Patients with Fanconi anemia, illustrating the skeletal (thumb and/or arm) abnormalities common to this disorder, which are helpful in early diagnosis. (Photographs kindly provided by Mark Kozin and Shriners Hospital for Children, Philadelphia, Pa.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
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Color Plate 11

A Roberts syndrome patient lacking the distal long bones in the arm. (Photograph kindly provided by Darrell Tomkins.)

Citation: Errol C, Graham C, Wolfram S, Richard D, Roger A, Tom E. 2006. Color Plates, In DNA Repair and Mutagenesis, Second Edition. ASM Press, Washington, DC.
Permissions and Reprints Request Permissions
Download as Powerpoint

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