Further delineation of the chromosome 14q terminal deletion syndrome

摘要: A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, long philtrum, upturned corners of the mouth, and mild developmental delay was found to have small subtelomeric deletion arm chromosome 14 (q32.31-qter). In comparing her phenotype previously reported patients similar 14q deletions, due either linear or ring 14, clinically recognizable terminal microdeletion syndrome evident. Due limited number cases reported, it not possible assign specific features regions 14q. The comparison in 14qter (n = 19) those 23), both same breakpoint 14q, showed that seizures retinitis pigmentosa been only chromosomes. Several hypotheses are put forward explain this difference: mitotic instability chromosomes; telomere position effect chromosomes which 14p silences nearby gene(s) on q-arm; dose-dependent involved located short 14. our opinion, may be explained by chromosomes, while silencing telomere; third hypothesis seems unlikely symptom. (C) 2002 Wiley-Liss, Inc