A report of a rare chromosome 9 variant with an unusual G-banding pattern in the 9qh region.

We present a case of a Caucasian multigravida with advanced maternal age who showed evidence of an unusual heterochromatin banding pattern on chromosome 9 and a similar fetal karyotype on amniocentesis. Although unusual banding patterns of this region have been described earlier, we report a new, clinically insignificant pattern. This case illustrates the care needed in analysing the heterochromatin region for accurate clinical interpretation of chromosome 9 polymorphisms.