title: Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].
abstract: The term hypomelanosis of Ito (HI) has been used as a diagnosis for individuals with swirly hypopigmentation or depigmentation distributed along the lines of Blaschko. HI should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. We report a six-month-old severely motor and mental retarded boy with these typical cutaneous lesions associated with extracutaneous features, including facial dysmorphism, polydactyly, and inguinal hernia. The cytogenetic examination of lymphocytes demonstrated a mosaicism of 46, XY, der (13;13) (q10;q10), +13/46, XY. This is the first case reported in the literature showing an association between phylloid pigmentary pattern of hypomelanosis of Ito and trisomy 13 mosaicism.
authors.affiliation: Department of Pediatrics, Dicle University Faculty of Medicine, Diyarbakir, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakinci
authors.forename: Nurettin Onur
authors.initials: NO
authors.lastname: Kutlu
authors.forename: M Nail
authors.initials: MN
authors.lastname: Alp
authors.forename: Mustafa
authors.initials: M
authors.lastname: Senol
authors.forename: Yaşar
authors.initials: Y
authors.lastname: Durmaz
authors.forename: Turgay
authors.initials: T
authors.lastname: Budak
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017809:Fatal Outcome; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D013036:Spasms, Infantile / Q000235:genetics; D014314:Trisomy / Q000235:genetics*