Hypomelanosis of Ito with trisomy 13 mosaicism
| dc.contributor.author | Yakinci C. | |
| dc.contributor.author | Kutlu N.O. | |
| dc.contributor.author | Alp M.N. | |
| dc.contributor.author | Şenol M. | |
| dc.contributor.author | Durmaz Y. | |
| dc.contributor.author | Budak T. | |
| dc.date.accessioned | 2024-04-24T17:58:42Z | |
| dc.date.available | 2024-04-24T17:58:42Z | |
| dc.date.issued | 2002 | |
| dc.department | Dicle Üniversitesi | en_US |
| dc.description.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. | en_US |
| dc.identifier.endpage | 155 | en_US |
| dc.identifier.issn | 0041-4301 | |
| dc.identifier.issue | 2 | en_US |
| dc.identifier.pmid | 12026206 | |
| dc.identifier.scopus | 2-s2.0-0036230513 | |
| dc.identifier.scopusquality | Q3 | |
| dc.identifier.startpage | 152 | en_US |
| dc.identifier.uri | https://hdl.handle.net/11468/24065 | |
| dc.identifier.volume | 44 | en_US |
| dc.indekslendigikaynak | Scopus | |
| dc.indekslendigikaynak | PubMed | |
| dc.language.iso | en | en_US |
| dc.relation.ispartof | Turkish Journal of Pediatrics | |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Hypomelanosis Of Ito | en_US |
| dc.subject | Phylloid Cutaneous Pattern | en_US |
| dc.subject | Trisomy 13 Mosaicism | en_US |
| dc.subject | West's Syndrome | en_US |
| dc.title | Hypomelanosis of Ito with trisomy 13 mosaicism | en_US |
| dc.title | Hypomelanosis of Ito with trisomy 13 mosaicism | |
| dc.title.alternative | 46, XY, der (13;13) (q10;q10), + 13/46,XY | en_US |
| dc.title.alternative | 46, XY, der (13;13) (q10;q10), + 13/46,XY | |
| dc.type | Article | en_US |
