Yakinci, CKutlu, NOAlp, MNSenol, MDurmaz, YBudak, T2024-08-042024-08-0420020041-4301https://hdl.handle.net/11616/103335The 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 kdemonstrated 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.eninfo:eu-repo/semantics/closedAccesshypomelanosis of Itotrisomy 13 mosaicismphylloid cutaneous patternWest's syndromeArticle44215215512026206WOS:000175316000013Q4