Hypomelanosis of Ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10),+13/46,XY]

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dc.contributor.authorYakinci, C
dc.contributor.authorKutlu, NO
dc.contributor.authorAlp, MN
dc.contributor.authorSenol, M
dc.contributor.authorDurmaz, Y
dc.contributor.authorBudak, T
dc.date.accessioned2024-04-24T17:47:42Z
dc.date.available2024-04-24T17:47:42Z
dc.date.issued2002
dc.departmentDicle Üniversitesien_US
dc.description.abstractThe 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.en_US
dc.identifier.endpage155en_US
dc.identifier.issn0041-4301
dc.identifier.issue2en_US
dc.identifier.pmid12026206
dc.identifier.startpage152en_US
dc.identifier.urihttps://hdl.handle.net/11468/22693
dc.identifier.volume44en_US
dc.identifier.wosWOS:000175316000013
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherTurkish J Pediatricsen_US
dc.relation.ispartofTurkish Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypomelanosis Of Itoen_US
dc.subjectTrisomy 13 Mosaicismen_US
dc.subjectPhylloid Cutaneous Patternen_US
dc.subjectWest's Syndromeen_US
dc.titleHypomelanosis of Ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10),+13/46,XY]en_US
dc.titleHypomelanosis of Ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10),+13/46,XY]
dc.typeArticleen_US

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