We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance.

Chromosome 7q deletions, FISH, Ribosomal material, Spectral karyotyping
dx.doi.org/10.1002/ajmg.1468, hdl.handle.net/1765/69262
American Journal of Medical Genetics
Department of Clinical Genetics

Wouters, C.H, Meijers-Heijboer, E.J, Eussen, H.J.F.M.M, van der Heide, A, van Luijk, R, van Drunen, E, … van Hemel, J.O. (2001). Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome. American Journal of Medical Genetics, 102(3), 261–265. doi:10.1002/ajmg.1468