Pigmentary mosaicism in hypomelanosis of Ito
✍ Scribed by B. Fritz; W. Küster; Karen Helene Ørstavik; Anna Naumova; Jürgen Spranger; Helga Rehder
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 440 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of thi