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