A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.

Patients with terminal deletions of chromosome 14 usually share a number of clinical features. The syndrome is thought not to be associated with multiple congenital anomalies. We report on a patient having a terminal deletion of about 3.2 Mb, with the breakpoint in 14q32.32. Multiple health problems led to his early death. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH)), we identified two previously reported patients with deletions in the terminal part of chromosome 14 of almost exactly the same size and compare the phenotypes of all three children. The phenotype of the current patient is much more severe than the phenotypes of the two patients reported previously. The patients also present different sets of dysmorphic features described previously as characteristic for 14q deletion syndrome. Molecular cytogenetic mapping showed that the breakpoints in all three patients were clustered within a 240 kb interval. The possibility of recurrent breakpoint location in terminal 14q deletion syndrome, as well as detailed characterization of the spectrum of phenotypes associated with the syndrome, will require the investigation of multiple patients with similar deletions in 14q.