Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.
case_report · Level V
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Abstract
We report the case of a male infant with incontinentia pigmenti (MIM 308310) and low-grade XXY mosaicism. Fluorescence in situ hybridization may reveal the underlying genetic alteration in male patients with incontinentia pigmenti and a normal karyotype.
Medical subject headings
- In Situ Hybridization, Fluorescence
- Incontinentia Pigmenti
- Mosaicism