Cytogenetic analysis of a case of '13q-syndrome' (46,XX,del 13) using banding techniques Article

cited authors

  • Wilson, L; Hodes, BL; Martin, AO; Elias, S; Ogata, E; Simpson, JL

fiu authors

abstract

  • Many chromosomal syndromes include ocular anomalies. In the del(13q) syndrome retinoblastoma, coloboma, and microphthalmia may be present. In the del(13q) case we report, the findings include colobomas and apparent microphthalmia, although the relatinoblastoma sometimes associated with this condition was not observed. More precise descriptions of the del(13q) syndrome relative to the region deleted using improved banding techniques may: increase the likelihood of accurate diagnosis, enhance clinical predictions, and possibly further clarify the genetic control over the development of the ocular system.

publication date

  • August 22, 1980

start page

  • 63

end page

  • 67

volume

  • 17

issue

  • 2