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Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism

✍ Scribed by Flannery, David B.


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
464 KB
Volume
35
Category
Article
ISSN
0148-7299

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Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort

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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