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Chromosome mosaicism in hypomelanosis of Ito

✍ Scribed by Ritter, Catherine L. ;Steele, Mark W. ;Wenger, Sharon L. ;Cohen, Bernard A.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 422 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350104

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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