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Am J Med Genet. 1990 Jan;35(1):14-7.

Chromosome mosaicism in hypomelanosis of Ito.

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1
Division of Medical Genetics, Children's Hospital, Pittsburgh, Pennsylvania.

Abstract

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 or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

PMID:
2301465
DOI:
10.1002/ajmg.1320350104
[Indexed for MEDLINE]
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