Hypomelanosis of ito associated with chromosomal translocation involving Xp11
- 15 September 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 40 (4) , 447-448
- https://doi.org/10.1002/ajmg.1320400414
Abstract
We report on a 3‐year‐old girl with hypohelanosis of Ito (HI). She has typical skin letions and mild CNS involvement characerized by impaired walking and borderline hental retardation. Cytogenetic investigation showed a 18/X translocation with breakpoint on Xp11. This is the sixth case of HI in whcih this reakpoint has been reported, undrlining hat this event cannot be considered coinciental. Further studies are needed to undrtand the etiologic and pathogenetic meaning of this finding.Keywords
This publication has 7 references indexed in Scilit:
- The gene for incontinentia pigmenti is assigned to Xq28Genomics, 1989
- Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1Human Genetics, 1986
- HYPOMELANOSIS OF ITO AND CHROMOSOMAL MOSAICISM IN FIBROBLASTSThe Lancet, 1986
- DIPLOID/TRIPLOID MIXOPLOIDY AND HYPOMELANOSIS OF ITOThe Lancet, 1986
- Hypomelanosis of Ito (incontinentia pigmenti achromians): A neurocutaneous syndromeThe Journal of Pediatrics, 1977
- Hypomelanosis of Ito ("Incontinentia Pigmenti Achromians")Archives of Dermatology, 1973
- Incontinentia pigmenti achromians(ITO)Dermatology, 1971