Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.
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.
Franco
Luis M
LM
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Goldstein
Jennifer
J
Prose
Neil S
NS
Selim
M Angélica
MA
Tirado
Carlos A
CA
Coale
Melissa M
MM
McDonald
Marie T
MT
D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism