Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation
Identifieur interne : 000801 ( France/Analysis ); précédent : 000800; suivant : 000802Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation
Auteurs : Sergey A. Nazarenko [Russie] ; Nadezhda V. Ostroverkhova [Russie] ; Elena O. Vasiljeva [Russie] ; Ludmila P. Nazarenko [Russie] ; Valery P. Puzyrev [Russie] ; Paul Malet [France] ; Tanja A. Nemtseva [Russie]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1999-07-16.
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. Am. J. Med. Genet. 85:179–182, 1999. © 1999 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19990716)85:2<179::AID-AJMG14>3.0.CO;2-R
Affiliations:
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Nazarenko</name><affiliation wicri:level="1"><country xml:lang="fr">Russie</country><wicri:regionArea>Institute of Medical Genetics, Tomsk</wicri:regionArea><wicri:noRegion>Tomsk</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Russie</country><wicri:regionArea>Professor of Genetics, Institute of Medical Genetics, Ushaika 10, Tomsk, 634050</wicri:regionArea><wicri:noRegion>634050</wicri:noRegion></affiliation></author><author><name sortKey="Ostroverkhova, Nadezhda V" sort="Ostroverkhova, Nadezhda V" uniqKey="Ostroverkhova N" first="Nadezhda V." last="Ostroverkhova">Nadezhda V. Ostroverkhova</name><affiliation wicri:level="1"><country xml:lang="fr">Russie</country><wicri:regionArea>Institute of Medical Genetics, Tomsk</wicri:regionArea><wicri:noRegion>Tomsk</wicri:noRegion></affiliation></author><author><name sortKey="Vasiljeva, Elena O" sort="Vasiljeva, Elena O" uniqKey="Vasiljeva E" first="Elena O." last="Vasiljeva">Elena O. 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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. Am. J. Med. Genet. 85:179–182, 1999. © 1999 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>France</li><li>Russie</li></country></list><tree><country name="Russie"><noRegion><name sortKey="Nazarenko, Sergey A" sort="Nazarenko, Sergey A" uniqKey="Nazarenko S" first="Sergey A." last="Nazarenko">Sergey A. 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Vasiljeva</name></country><country name="France"><noRegion><name sortKey="Malet, Paul" sort="Malet, Paul" uniqKey="Malet P" first="Paul" last="Malet">Paul Malet</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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