Skip to main content
Archives of Disease in Childhood. Fetal and Neonatal Edition logoLink to Archives of Disease in Childhood. Fetal and Neonatal Edition
. 1994 Jul;71(1):F57–F58. doi: 10.1136/fn.71.1.f57

Trisomy 22 and intersex.

R M Nicholl 1, L Grimsley 1, L Butler 1, R W Palmer 1, H C Rees 1, M O Savage 1, K Costeloe 1
PMCID: PMC1061073  PMID: 8092876

Abstract

Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.

Full text

PDF
F58

Images in this article

Selected References

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

  1. Begleiter M. L., Kulkarni P., Harris D. J. Confirmation of trisomy 22 by trypsin-giemsa staining. J Med Genet. 1976 Dec;13(6):517–520. doi: 10.1136/jmg.13.6.517. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Berkovitz G. D., Fechner P. Y., Marcantonio S. M., Bland G., Stetten G., Goodfellow P. N., Smith K. D., Migeon C. J. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet. 1992 Feb;88(4):411–416. doi: 10.1007/BF00215675. [DOI] [PubMed] [Google Scholar]
  3. Kim H. J., Hsu L. Y., Goldsmith L. C., Strauss L., Hirschhorn K. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. J Med Genet. 1977 Apr;14(2):114–119. doi: 10.1136/jmg.14.2.114. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Penchaszadeh V. B., Coco R. Trisomy 22. Two new cases and delineation of the phenotype. J Med Genet. 1975 Jun;12(2):193–199. doi: 10.1136/jmg.12.2.193. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood Fetal and Neonatal edition are provided here courtesy of BMJ Publishing Group

RESOURCES