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Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.
Am J Med Genet 1999; 85(2):179-82AJ

Abstract

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.

Authors+Show Affiliations

Institute of Medical Genetics, Tomsk, Russia. snaz@img.tsu.ruNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10406673

Citation

Nazarenko, S A., et al. "Keratosis Pilaris and Ulerythema Ophryogenes Associated With an 18p Deletion Caused By a Y/18 Translocation." American Journal of Medical Genetics, vol. 85, no. 2, 1999, pp. 179-82.
Nazarenko SA, Ostroverkhova NV, Vasiljeva EO, et al. Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation. Am J Med Genet. 1999;85(2):179-82.
Nazarenko, S. A., Ostroverkhova, N. V., Vasiljeva, E. O., Nazarenko, L. P., Puzyrev, V. P., Malet, P., & Nemtseva, T. A. (1999). Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation. American Journal of Medical Genetics, 85(2), pp. 179-82.
Nazarenko SA, et al. Keratosis Pilaris and Ulerythema Ophryogenes Associated With an 18p Deletion Caused By a Y/18 Translocation. Am J Med Genet. 1999 Jul 16;85(2):179-82. PubMed PMID: 10406673.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation. AU - Nazarenko,S A, AU - Ostroverkhova,N V, AU - Vasiljeva,E O, AU - Nazarenko,L P, AU - Puzyrev,V P, AU - Malet,P, AU - Nemtseva,T A, PY - 1999/7/16/pubmed PY - 2000/6/20/medline PY - 1999/7/16/entrez SP - 179 EP - 82 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 85 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10406673/Keratosis_pilaris_and_ulerythema_ophryogenes_associated_with_an_18p_deletion_caused_by_a_Y/18_translocation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1999&volume=85&issue=2&spage=179 DB - PRIME DP - Unbound Medicine ER -