A new balanced translocation in humans: t (3;8) (q21;q24)
Verma, R.S.; Dosik, H.; Salazar, J.D.
Journal of Reproductive Medicine 26(3): 133-134
1981
ISSN/ISBN: 0024-7758 PMID: 7230148 Document Number: 170240
A couple with 3 abortions was referred for cytogenetic evaluation. The wife (32 yr) was cytogenetically normal, and the husband (34 yr) had translocation involving chromosomes 3 and 8. The breakpoint was on the long arm (q) of chromosome 3, band 21 (3q21), and the whole terminal part was translocated to the long arm of chromosome 8. There was no loss of genetic material that could be detected at the microscopic level. Such a translocation has not been found previously. However, the long arm of chromosome 3 (3q) has been involved in translocation with other chromosomes. The surprising findings in all cases reported was that the breakpoint was always at 3q21. The 3q21 band apparently has a locus that is highly sensitive to breaks. All 11 cases produced children with trisomy for 3q21, and an attempt has been made to define a 3q syndrome. Couples with chromosomal abnormalities should be recommended for amniocentesis.