As published in Cancer Genetics and Cytogenetics, vol. 77, No.1, pp. 65-68

Translocations in 7q22 define a critical region in uterine leiomyomata.


Mary S. Sargent, Stanislawa Weremowicz, Mitchell S. Rein, and Cynthia C. Morton
From the Departments of Pathology and Obstetrics, Gynecolgy and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, Masachusetts


Rearrangements involving the long arm of chromosome 7 in uterine leiomyoma are widely recognized and comprise one of the major cytogenetic subgroups of these tumors. To approach a molecular genetic investigation of this subgroup for identification of a gene(s) involved in the biology of uterine leiomyomata we have analyzed breakpoints in the del(7q) subgroup in a series of myomas karyotyped in our laboratory. Herein we report the cytogenetic analysis of 11 uterine leiomyomata: eight with interstitial deletions in the long arm of chromosome 7 and three with translocations in 7q. These translocations provide further support for 7q22 as the critical band in the del(7q) subgroup.


Table 1. Summary of cytogenetic data on uterine leiomyomata involving rearrangements in 7q








Figure 1. Partial GTG-banded karyotypes of uterine leiomyoma cases with interstitial deletions of chromosome 7 and corresponding ideograms of the normal chromosome 7 and del(7q).


a) Seven cases had del(7)(q22q32) and a representative parital karyotype is shown.
b) One case had a smaller interstitial deletion of 7q, del(7)(q22q31).


Figure 2. Partial GTG-banded karyotypes of uterine leiomyoma cases identified with translocations in 7q and corresponding ideograms.

a) A paritial karyotype is shown of the t(1;7)(q42;q22) translocation representative of the two cases with this rearrangement.



b) One case was found with a translocation involving the long arms of chromosomes 7 and 9, t(7;9)(q22;q22).