Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

Autor: Paul Malet, V. P. Puzyrev, Elena O. Vasiljeva, Ludmila P. Nazarenko, S. A. Nazarenko, Tanja A. Nemtseva, N. V. Ostroverkhova
Rok vydání: 1999
Předmět:
Zdroj: American Journal of Medical Genetics. 85:179-182
ISSN: 1096-8628
0148-7299
DOI: 10.1002/(sici)1096-8628(19990716)85:2<179::aid-ajmg14>3.0.co;2-r
Popis: We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in p11.2 on both involved chromosomes. The patient had another normal Y chromosome. This is a third report the presence of a chromosome 18p deletion (and first case of a translocation involving 18p and a sex chromosome) with this genodermatosis. Our data suggest that the short arm of chromosome 18 is a candidate region for a gene causing keratosis pilaris. Unmasking of a recessive mutation at the disease locus by deletion of the wild type allele could be the cause of the recessive genodermatosis.
Databáze: OpenAIRE
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