54
Views
16
CrossRef citations to date
0
Altmetric
Research Article

Ocular manifestations of mosaic trisomy 22: A case report and review of the literature

Pages 53-56 | Published online: 08 Jul 2009

References

  • Hasseld T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA. A cytogenetic study of moo spontaneous abortions. Ann Hum Genet. 198o:44:151–178.
  • Vorha K, Verma RS, Concepcion L. Trisomy 22: report of a patient diagnosed as a neonate. Dis Markers. 1987;5: 13–18.
  • Kukolich MK, Kulharya A, Jalal SM, Drummond-Borg M. Trisomy 22: no longer an enigma. Am J Med Genet. 1989;34: 541–544.
  • Sundereshan TS, Naguib KK, Al-Awadi SA, Redha MA, Hamoud MS. Apparently non-mosaic trisomy 22: clinical report and review. Am J Med Genet. 1990:36: 7–10.
  • Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D. Asymmetry and skin pigmentary anomalies in chromosomal mosaicism. J Med Genet. 1994;31: 694–701.
  • Lund HT, Tranebjaerg L. Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl. Acta Paediatr Scand. 1990;79: 714–718.
  • Lessick ML, Szego K, Wong PWK. Trisomy 22 mosaicism with normal blood chromosomes. Guth Pediatr. 1988;27: 451–454.
  • Schinzel AA. Incomplete trisomy 22. Hum Genet. 1981;56:269–273.
  • Dulitzki F, Shabtal F, Zlotogora J, Halbrecht I, Elain E. Unilateral radial aplasia and trisomy 22 mosaicism. J Med Genet. 1981;18: 473–476.
  • Crowe CA, Schwartz S, Black CJ, Jaswaney V. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet. 1997;71:406–413.
  • Wertelecki W, Breg WR, Graham JM, Linuma K, Puck SM, Sergovich FR. Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. Am J Med Genet. 1986;23:739–749.
  • Pridjian J, Shapira E. Goldenhar sequence and mosaic trisomy 22. Am J Med Genet. 1995;59:411–413.
  • De Ravel TJ, Leguis E, Brems H, Van Hoestenberghe R, Gillis PH, Fryns JP. Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor. Guth Dysmorphol. 2001 10(4)263–267.
  • Basaran N, Berkil H, Ay N, Durak B, Ataman C, Ozdemir M, Ozon YH, Kaya I. A rare case: mosaic trisomy 22. Ann Genet. 2001;44(4): 183–186.
  • Berghella V, Wapner RJ, Yang-Feng T, Mahoney MJ. Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling. Prenat Diagn. 1998;18(4): 384–389.
  • Hirschhorn K. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet. 1998;76(5):447.
  • De Pater JM, Schuring-Blom GH, Van den Bogaard R, Van der Sijs-Bos CJ, Christiaens GC, Stoutenbeek P, Leschot NJ. Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diagn. 1997;17(1):81–86.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.