Linked Life Data

10406673

Source:http://linkedlifedata.com/resource/pubmed/id/10406673

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-9-30
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
16
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
179-82
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.
pubmed:affiliation
Institute of Medical Genetics, Tomsk, Russia. snaz@img.tsu.ru
pubmed:publicationType
Journal Article, Case Reports