Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11
✍ Scribed by Koiffmann, Célia P. ;de Souza, Deise H. ;Diament, Aron ;Ventura, Heloisa B. ;Alves, Rosana S. ;Kihara, Sonia ;Wajntal, Anita
- Book ID
- 101447193
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 475 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on a girl with apparent hypomelanosis of It0 (I'lD); cytogenetic studies disclosed the karyotype 46,X,t(X;lO)(pll;qll)mat. We present further evidence that at least one of the genetic forms of IT0 is located at X p l l ; reviewing the clinical characteristics of patients with incontinentia pigmenti type l (IP1) and IT0 with X-autosome translocations, we suggest that IP1 and IT0 represent allelic forms or a contiguous gene syndrome. Thus, different genetic alterations in this region (Xpll) give rise to IT0 or IP1 or borderline phenotypes. We also suggest that all patients with ITO, due to X p l l mutation, have functional or genetic mosaicisms. 0 1993 Why-Lies. Inc.