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The clinical and genetic picture of trisomy 18 (Edwards' syndrome)

✍ Scribed by Shibata, K. ;Waldenmaier, C. ;Hirsch, W.

Publisher
Springer-Verlag
Year
1973
Weight
962 KB
Volume
116
Category
Article
ISSN
0044-2917

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✦ Synopsis

Six patients with Edwards' syndrome were studied. One child (case 2) was found to have a structural anomaly of a B chromosome as well as an extra chromosome of pail" No. 18: ~7,X~(,18+,inv.(Bp+q--). Case 3 showed additional malformations not commonly present in Edward's syndrome. Case 4 was a twin; the twin sister was clinically and chromosomally normal. In case 6, which came to our attention after the discovery of the banding technique, it was possible to diagnose as trisomy 18 unequivocally by this method. Some striking features of the dermatoglyphics and creases are discussed.

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