Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)

Hum Genet. 1993 Feb;90(6):611-3. doi: 10.1007/BF00202477.

Authors

E Steichen-Gersdorf¹, R Trawöger, H C Duba, U Mayr, S Felber, G Utermann

Affiliation

¹ Universitäts-Kinderklinik, Universität Innsbruck, Austria.

PMID: 8444466
DOI: 10.1007/BF00202477

Abstract

We describe a de novo constitutional (X;17) (q13;p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Choroid Plexus Neoplasms / complications
Choroid Plexus Neoplasms / genetics*
Chromosomes, Human, Pair 17*
Ependymoma / complications
Ependymoma / genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Pigmentation Disorders / complications
Pigmentation Disorders / genetics*
Translocation, Genetic*
X Chromosome*