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- Diseases & Syndromes (1/6) - HANDDIAGNOSTICS: DISEASES & SYNDROMES
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The previous part of this course reported that the many research programs on Down's syndrome have been most successfull.
But various research programs on other diseases and syndromes have resulted in other interesting insights as well. Down's syndrome & other trisomies
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The genetic material of 'trisomy syndromes' is characterized by an extra chromosome on one of the 23 pairs of chromosomes.
In Down's syndrome (trisomie 21) this extra chromosome is always observed on the 21th chromosome pair: see figure A-8 on the last page.
Other examples are: Edward's syndrome (trisomy 18), Patau's syndrome (trisomy 13),
and Warkany's syndrome (trisomy 8).
Stereotypes:
Normal
Trisomy 8
Trisomy 13
Trisomy 18
Trisomy 21
Discovered by:
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Warkany
Patau
Edward
Down
Simian crease
1-5 %
40 %
60 %
75 %
60 %
t"
6 %
65 %
95 %
50 %
65 %
A-line: wrist
5 %
Zelfzaam
70 %
25 %
Zeldzaam
Fingerprint dermatoglyphics:
Large variation
Many arches + whorls
Many arches
Very many arches
Many ulnare loops
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Table B-1: Common stereotype palmar 'trisomy features'.1-2
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Sources:
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1 - Schaumann, B. & Alter, M. Dermatoglyphics in Medical Disorders. Springer-Verlag, New York., 1976.
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2 - Loesch, D.L. Quantitative Dermatoglyphics: Classification, genetics, and pathology. Oxford Medical Publications, 1983.