Familial presentation of balanced translocation t(7 ; 14) with split in elastin region

The conventional chromosome analysis of two brother and mother by high resolition banding unexpectedly revealed a balanced translocation between chromosome 7 and 14. Subsequent FISH analysis with WSCR and centromeric 7 probes showed that the break point has split the elastin region. The mother and her two sons carry the same translocation. The karyotype of brothers is: 46, XY, t(7 ; 14)(q11.23 ; p12).ish t(7, 14)(D7Z1, ELNsp)mat.