Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation

A patient with Turner phenotype was found to carry two de novo chromosome aberrations: a 45,X line and a whole arm reciprocal translocation t(3;9). Fluorescence in situ hybridisation on metaphase cells using alpha satellite DNA for chromosome 3 and beta satellite and 'classical' satellite DNA for chromosome 9 showed that the centromeric region of chromosome 3 was retained in the 3q9q translocation derivative, as was the secondary constriction heterochromatin of chromosome 9. No signals were observed in the 3p9p derivative with the three probes. This suggests that the breakpoints were on 3p11 and 9q11. The karyotype was 45,X,t(3;9)(3qter-->3p11::9q11-->9qter; 9qter-->9q11::3p11-->3pter).