Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Feb;34(2):161–163. doi: 10.1136/jmg.34.2.161

Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

L S Correa-Cerro 1, H Rivera 1, A I Vasquez 1
PMCID: PMC1050873  PMID: 9039996

Abstract

We report on a 16 month old girl with hypomelanosis of Ito and a balanced de novo (X;13)(q10;q10) translocation in which the der(Xp13q) had the X centromere (as assessed by FISH with the DXZ3 probe). A functional Xp disomy was shown in a small proportion of cultured lymphocytes by means of a BrdU terminal pulse. This observation supports the notion of a distinct form of hypomelanosis of Ito resulting from a functional Xp disomy.

Full text

PDF
162

Images in this article

162Image
on p.162
162Image
on p.162

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Flannery D. B. Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. Am J Med Genet. 1990 Jan;35(1):18–21. doi: 10.1002/ajmg.1320350105. [DOI] [PubMed] [Google Scholar]
  2. Gilgenkrantz S., Tridon P., Pinel-Briquel N., Beurey J., Weber M. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? Ann Genet. 1985;28(2):90–92. [PubMed] [Google Scholar]
  3. Glover M. T., Brett E. M., Atherton D. J. Hypomelanosis of Ito: spectrum of the disease. J Pediatr. 1989 Jul;115(1):75–80. doi: 10.1016/s0022-3476(89)80332-4. [DOI] [PubMed] [Google Scholar]
  4. Gustashaw K. M., Zurcher V., Dickerman L. H., Stallard R., Willard H. F. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. Am J Med Genet. 1994 Oct 15;53(1):39–45. doi: 10.1002/ajmg.1320530109. [DOI] [PubMed] [Google Scholar]
  5. 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. 1996 Mar;33(3):216–220. doi: 10.1136/jmg.33.3.216. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Hodgson S. V., Neville B., Jones R. W., Fear C., Bobrow M. Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet. 1985;71(3):231–234. doi: 10.1007/BF00284581. [DOI] [PubMed] [Google Scholar]
  7. Jelinek J. E., Bart R. S., Schiff S. M. Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature. Arch Dermatol. 1973 Apr;107(4):596–601. [PubMed] [Google Scholar]
  8. 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 146150): further evidence of localization at Xp11. Am J Med Genet. 1993 Jun 15;46(5):529–533. doi: 10.1002/ajmg.1320460514. [DOI] [PubMed] [Google Scholar]
  9. Lungarotti M. S., Martello C., Calabro A., Baldari F., Mariotti G. Hypomelanosis of Ito associated with chromosomal translocation involving Xp11. Am J Med Genet. 1991 Sep 15;40(4):447–448. doi: 10.1002/ajmg.1320400414. [DOI] [PubMed] [Google Scholar]
  10. Ritter C. L., Steele M. W., Wenger S. L., Cohen B. A. Chromosome mosaicism in hypomelanosis of Ito. Am J Med Genet. 1990 Jan;35(1):14–17. doi: 10.1002/ajmg.1320350104. [DOI] [PubMed] [Google Scholar]
  11. Steichen-Gersdorf E., Trawöger R., Duba H. C., Mayr U., Felber S., Utermann G. Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17). Hum Genet. 1993 Feb;90(6):611–613. doi: 10.1007/BF00202477. [DOI] [PubMed] [Google Scholar]
  12. Sybert V. P., Pagon R. A., Donlan M., Bradley C. M. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr. 1990 Apr;116(4):581–586. doi: 10.1016/s0022-3476(05)81606-3. [DOI] [PubMed] [Google Scholar]
  13. Thomas I. T., Frias J. L., Cantu E. S., Lafer C. Z., Flannery D. B., Graham J. G., Jr Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet. 1989 Aug;45(2):193–205. [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES