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Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1

✍ Scribed by Catherine Turleau; F. Taillard; Mireille Doussau de Bazignan; Nicole Delépine; J. C. Desbois; J. Grouchy

Book ID
104702912
Publisher
Springer
Year
1986
Tongue
English
Weight
319 KB
Volume
74
Category
Article
ISSN
0340-6717

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Incontinentia pigmenti achromians (hypom
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11
✍ Koiffmann, Célia P. ;de Souza, Deise H. ;Diament, Aron ;Ventura, Heloisa B. ;Alv 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

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

Chromosome mosaicism in hypomelanosis of
Chromosome mosaicism in hypomelanosis of Ito
✍ Ritter, Catherine L. ;Steele, Mark W. ;Wenger, Sharon L. ;Cohen, Bernard A. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 422 KB 👁 2 views

Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort