Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas
- 23 April 1979
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (4) , 332-345
- https://doi.org/10.1111/j.1399-0004.1979.tb01743.x
Abstract
The pathogenetic influences of selective deletion and triplication of chromosome 13 derived from a familial 12;13 insertional translocation were compared. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter .fwdarw. q12.5: :q22.1 .fwdarw. qter)mat], and in his sister the relatively modest effects of triplication of the mid-portions of 13q are demonstrated [46,XX,ins(12;13) (12pter .fwdarw. 12p11.2: :13q22.1 .fwdarw. 13q12.5: :12p11.2 .fwdarw. 12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about the breakpoints.Keywords
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