Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization

Luis M Franco; Jennifer Goldstein; Neil S Prose; M Angélica Selim; Carlos A Tirado; Melissa M Coale; Marie T McDonald

doi:10.1016/j.jaad.2005.11.1068

Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization

J Am Acad Dermatol. 2006 Jul;55(1):136-8. doi: 10.1016/j.jaad.2005.11.1068.

Authors

Luis M Franco¹, Jennifer Goldstein, Neil S Prose, M Angélica Selim, Carlos A Tirado, Melissa M Coale, Marie T McDonald

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

PMID: 16781308
DOI: 10.1016/j.jaad.2005.11.1068

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.

Publication types

Case Reports

MeSH terms

Humans
In Situ Hybridization, Fluorescence*
Incontinentia Pigmenti / genetics*
Incontinentia Pigmenti / pathology
Infant, Newborn
Male
Mosaicism*

Associated data

OMIM/308310