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.
Original language | English (US) |
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Pages (from-to) | 14-17 |
Number of pages | 4 |
Journal | American journal of medical genetics |
Volume | 35 |
Issue number | 1 |
DOIs | |
State | Published - 1990 |
Externally published | Yes |
Keywords
- Cytogenetic clinical marker
- Incontinentia pigmenti achromians
- Ring chromosome 22
ASJC Scopus subject areas
- Genetics(clinical)