Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

We report on an 18-month-old boy with a 2q33.3 deletion. The clinical findi ngs observed in the propositus included minor anomalies of face and distal limbs, intrauterine and postnatal growth retardation, microcephaly and, so far, moderate developmental delay. Conventional GTG banded chromosome analy sis indicated a small deletion in distal 2q. Subsequent analysis by fluores cent in situ hybridization (FISH) using different probes allowed us to narr ow down the deletion to most or all of segment 2q33.3. This case shows the importance of the application of different YAC probes for a precise determi nation of breakpoints in small interstitial deletions. (C) 2001 Wiley-Liss, Inc.