Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3 (original) (raw)

Abstract

We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.

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Selected References

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  1. Ballabio A., Parenti G., Carrozzo R., Coppa G., Felici L., Migliori V., Silengo M., Franceschini P., Andria G. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet. 1988 Jul;34(1):31–37. doi: 10.1111/j.1399-0004.1988.tb02612.x. [DOI] [PubMed] [Google Scholar]
  2. Curry C. J., Magenis R. E., Brown M., Lanman J. T., Jr, Tsai J., O'Lague P., Goodfellow P., Mohandas T., Bergner E. A., Shapiro L. J. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med. 1984 Oct 18;311(16):1010–1015. doi: 10.1056/NEJM198410183111603. [DOI] [PubMed] [Google Scholar]
  3. Delleman J. W., Oorthuys J. W., Bleeker-Wagemakers E. M., ter Haar B. G., Ferguson J. W. Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity. Clin Genet. 1984 May;25(5):470–472. doi: 10.1111/j.1399-0004.1984.tb02019.x. [DOI] [PubMed] [Google Scholar]
  4. Goltz R. W., Henderson R. R., Hitch J. M., Ott J. E. Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Arch Dermatol. 1970 Jan;101(1):1–11. doi: 10.1001/archderm.101.1.1. [DOI] [PubMed] [Google Scholar]
  5. Goodfellow P., Darling S., Wolfe J. The human Y chromosome. J Med Genet. 1985 Oct;22(5):329–344. doi: 10.1136/jmg.22.5.329. [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. Johnston K., Schonberg S., Littman V., Gregory T., Gelbart S., O'Donnell J., Cox D. R. De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities. Am J Med Genet. 1987 Jul;27(3):603–611. doi: 10.1002/ajmg.1320270313. [DOI] [PubMed] [Google Scholar]
  8. Temple I. K., Hurst J. A., Hing S., Butler L., Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet. 1990 Jan;27(1):56–58. doi: 10.1136/jmg.27.1.56. [DOI] [PMC free article] [PubMed] [Google Scholar]