Functional Xp disomy and hypomelanosis of ito

Archives of Medical Research

Volumn 31, Issue 1, 2000, Pages 88-92

  Rivera, Horacio ^a   Correa Cerro, Lina S ^a   Robinson, David O ^b   Crolla, John A ^b  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

Functional Xp disomy; Hypomelanosis of Ito; Skewed X inactivation; X; autosome translocations

Indexed keywords

ANDROGEN RECEPTOR;

ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION; CYTOGENETICS; DISOMY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; HUMAN; HYPOMELANOSIS; INCONTINENTIA PIGMENTI; PSYCHOMOTOR RETARDATION; SEIZURE; SKIN FIBROBLAST; X CHROMOSOME INACTIVATION;

CHROMOSOMES, HUMAN, PAIR 13; DOSAGE COMPENSATION, GENETIC; FEMALE; HUMANS; KARYOTYPING; PIEBALDISM; POLYMERASE CHAIN REACTION; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0034594477     PISSN: 01884409     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0188-4409(99)00081-8     Document Type: Article

References (22)

1. Ruiz-Maldonado R., Toussaint S., Tamayo L., Laterza A., del Castillo V. Hypomelanosis of Ito. diagnostic criteria and report of 41 cases Pediatr Dermatol. 9:1992;1.
2. Küster W., König A. Hypomelanosis of Ito. no entity, but a cutaneous sign of mosaicism Am J Med Genet. 85:1999;346.
3. Hatchwell E. Hypomelanosis of Ito and X;autosome translocations. a unifying hypothesis J Med Genet. 33:1996;177.
4. Toriello H.V., Glover T.W., Takahara K., Byers P.H., Miller D.E., Higgins J.V., Greenspan D.S. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet. 13:1996;361.
5. Correa-Cerro L.S., Rivera H., Vásquez A.I. Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito. J Med Genet. 34:1997;161.
6. Sybert V.P. A case revisited. recent presentation of Incontinentia pigmenti in association with a previously reported X;autosome translocation Am J Med Genet. 75:1998;334.
7. Hatchwell E., Robinson D., Crolla J.A., Cockwell A.E. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation. evidence for functional disomy of Xp J Med Genet. 33:1996;216.
8. Allen R.C., Zoghby H.Y., Moseley A.B., Rosenblatt H.M., Belmont J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X-chromosome inactivation. Am J Hum Genet. 51:1992;1229.
9. Schmidt M., Du Sart D. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations. Am J Med Genet. 42:1992;161.
10. Fisher A.M., Cockwell A.E., Moore K.J., Gregson N.M., Campbell P.L., Campbell C.M., Herbert A., Barber J.C.K., Crolla J.A. Rapid in situ harvesting and cytogenetic analysis of prenatal and perinatal tissue samples. Prenat Diag. 16:1996;615.
11. Pinkel D., Landegent J., Collins C., Fuscoe J., Segraves R., Lucas J., Gray J. Fluorescence in situ hybridization with human chromosome-specific libraries. detection of trisomy 21 and translocations of chromosome 4 Proc Natl Acad Sci USA. 85:1986;9138.
12. ISCN (1995). An International System for Human Cytogenetic Nomenclature. Mitelman F, editor. Basel, Switzerland: S. Karger;1995.
13. Thomson L.L., Stein C.K., Kamatu D., Hoo J.J. Two cases of Xp interstitial tandem duplication. no correlation between X inactivation patterns and mental status in one family, and hypomelanosis of Ito in another mosaic case Am J Hum Genet. 57:1995;A128.
14. De Grouchy J., Turleau C., Doussau de Bazignan M., Maroteaux P., Thibaud X. Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. Ann Genet. 28:1985;86.
15. Van Dyke D., Viktor A., Palmer C.G., Miller D.A., Witt M., Babu V.R., Worsham M.J., Robertson J.R., Weiss L. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. Am J Med Genet. 43:1992;996.
16. Dennis N.R., Collins A.L., Crolla J.A., Cockwell A.E., Fisher A.M., Jacobs P.A. Three patients with r(X) chromosomes and a severe phenotype. J Med Genet. 30:1993;482.
17. Fritz B., Küster W., Orstavik K.H., Naumova A., Spranger J., Rehder H. Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp. Hum Genet. 103:1998;441.
18. Migeon B.R., Jeppesen P., Torchia B.S., Fu S., Dunn M.A., Axelman J., Schmeckpeper B.J., Fautes J., Zori R.T., Driscoll D.J. Lack of X inactivation associated with maternal X isodisomy. evidence for a counting mechanism prior to X inactivation during human embryogenesis Am J Hum Genet. 58:1996;161.
19. Willard H.F. Evolution of alpha satellite. Curr Opin Genet Dev. 1:1991;509.
20. Koiffmann C.P., De Souza D.H., Diament A., Ventura H.B., Alves R.S., Kihara S., Wajntal A. Incontinentia pigmenti achromians (hypomelanosis of Ito, MIM 14650). further evidence of localization at Xp11 Am J Med Genet. 46:1993;529.
21. Robinson D.O., Boyd Y., Cockburn D., Collinson M.N., Craig J., Jacobs P.A. The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis. Genet Res. 56:1990;135.
22. Page S.L., Shaffer L.G. Nonhomologous robertsonian translocations form predominantly during female meiosis. Nat Genet. 15:1997;231.