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A case of trisomy 18 mosaicism with peculiar features

✍ Scribed by L. Pavone; H. Zellweger; G. Abbo; R. Gauchat; B. Knecht


Publisher
Springer
Year
1970
Tongue
English
Weight
380 KB
Volume
11
Category
Article
ISSN
0340-6717

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We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectod

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