CHROMOSOME 3P23 BREAK WITH RING FORMATION AND TRANSLOCATION OF DISPLACED 3P23-]PTER SEGMENT TO 6PTER

An 11 year old boy with short stature, learning difficulties, and no o bvious facial anomalies has a ring (3)(p23q29) formed by a break in th e short arm at 3p23 and subsequent fusion with 3qter. A second rearran gement involving translocation of the displaced 3p23-->pter segment to chromosome 6 at 6pter is non-reciprocal with no obvious loss of dista l 6pter material. The involvement of one chromosome in two separate re arrangements is uncommon. The patient's relatively mild phenotype appe ars to be associated with the ((ring syndrome)) and ring instability i n division rather than from any segmental aneuploidy resulting from th e presence of the two rearrangements.