title: Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.
abstract: Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: F
authors.initials: F
authors.lastname: Taillard
authors.forename: M
authors.initials: M
authors.lastname: Doussau de Bazignan
authors.forename: N
authors.initials: N
authors.lastname: Delépine
authors.forename: J C
authors.initials: JC
authors.lastname: Desbois
authors.forename: J
authors.initials: J
authors.lastname: de Grouchy
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010859:Pigmentation Disorders / Q000235:genetics*
chemical_list: D005819:Genetic Markers