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

American Journal of Medical Genetics

Volumn 85, Issue 2, 1999, Pages 179-182

  Nazarenko, Sergey A ^a   Ostroverkhova, Nadezhda V ^a   Vasiljeva, Elena O ^a   Nazarenko, Ludmila P ^a   Puzyrev, Valery P ^a   Malet, Paul ^b   Nemtseva, Tanja A ^a  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

^b UNIVERSITÉ CLERMONT AUVERGNE   (France)

Author keywords

Keratosis pilaris; Monosomy 18p; Translocation Y 18; Ulerythema ophryogenes

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA PROBE; GENE DELETION; GENE MUTATION; GENE TRANSLOCATION; GENODERMATOSIS; HUMAN; HUMAN CELL; KERATOSIS; MALE; PARTIAL MONOSOMY; PRIORITY JOURNAL; Y CHROMOSOME;

ADOLESCENT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; EYEBROWS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; KERATOSIS; MALE; SKIN DISEASES; TRANSLOCATION, GENETIC;

EID: 0033026615     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990716)85:2<179::AID-AJMG14>3.0.CO;2-R     Document Type: Article

References (15)

1. Aksu F, Mietens C, Seholz W, 1976. Numerische und strukturelle aberrationen des chromosome Nr.18. Klin Paediatr 188:220-232.
2. Azambuja R, Proenca NG, Cardoso WV. 1987. Ulerythema ophryogenes and folliculitis ulerythematosa reticulata. Hautarzt 38:411-413.
3. Baden HP, Byers HR. 1994. Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans. Arch Dermatol 130:469-475.
4. de Grouchy J, Turleau C. 1984. Clinical atlas of human chromosomes. New York: John Wiley. p 308-313.
5. el Kalla S, Mathews AR, Menon NS. 1992. del(18p) syndrome with complex tetralogy of Fallot in an infant with 45,X,t(Y;18)(q12;q11.2). Am J Med Genet 42:665-666.
6. Fryns JP, Kleczkowska A, Vinken L, Geutjens J, Smeets E, van den Berghe H. 1986. Acrocentric/18p translocation in two mentally retarded males. Ann Genet 29:107-111.
7. Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, Pezzolo A. 1996. The phenotype of a 45,X male with a Y/18 translocation. Clin Genet 49:37-41.
8. Horsley SW, Knight SJL, Nixon J, Huson S, Fitchett M, Boone RA, Hilton-Jones D, Flint J, Kearney L. 1998. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. J Med Genet 35:722-726.
9. Kakinuma S, Sasabe F, Negoro K, Nogaki H, Morimatsu M. 1994. 18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect. Rinsho Shinkeigaku 34: 474-478.
10. Lau YF, Ying KL, Donnell GN. 1985. Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe. Hum Genet 69:102-105.
11. Lichter P, Cremer T. 1992. Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowski BH, editors. Human cytogenetics. A practical approach. New York: Oxford University Press, V.1. p 157-192.
12. Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F, Schempp W, Scherer G, Vaccaro R, Weissenbach J. 1986. A 45,X male with a Yp/18 translocation. Hum Genet 74:126-132.
13. Oranje AP, Loes DM, Oosterwijk JC. 1994. Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities? Arch Dermatol 130:500-502.
14. Schinzel A, Schmid W, Luscher U, Nater M, Brook C, Steinmann B. 1974. Structural aberrations of chromosome 18. I. The 18p-syndrome. Arch Genetik 47:1-15.
15. Zouboulis CC, Stratakis CA, Rinck G, Wegner RD, Gollnick H, Orfanos CE. 1994. Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p. Pediatr Dermatol 11:172-175.