Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.
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.
Turleau
C
C
Taillard
F
F
Doussau de Bazignan
M
M
Delépine
N
N
Desbois
J C
JC
de Grouchy
J
J
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*
D005819:Genetic Markers