Mosaic telomeric (2;14) association in a child with motor delay

In a 6-year-old girl referred because of mild motor delay and hyperextensib le joints, chromosome analysis disclosed a derivative chromosome consisting of end-to-end fusion of chromosomes 2 and 14, Two cell lines existed in wh ich this telomere association was present, one with a 45,XX,tas(2;14)(q31;p 11) karyotype and one with a 45,XX,tas(2;14) (q37;q32) karyotype. The cell line with the telomeric fusion of 2q and 14p was present in 90% of the cell s; a telomeric fusion of 2q and 14q was seen in the remaining 10% of the ce lls. In both association complexes, only the centromere of chromosome 14 wa s active. Fluorescence in situ hybridization with telomere and subtelomere probes disclosed no deletion of chromosomal material. Microsatellite analys is showed that the patient had a normal biparental contribution of chromoso mes 14, Am. J. Med. Genet. 92: 318-321, 2000. (C) 2000 Wiley-Liss, Inc.