Hypomelanosis of Ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10),+13/46,XY]
Küçük Resim Yok
Tarih
2002
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish J Pediatrics
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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 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.
Açıklama
Anahtar Kelimeler
hypomelanosis of Ito, trisomy 13 mosaicism, phylloid cutaneous pattern, West's syndrome
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
44
Sayı
2
