Nonreciprocal and jumping translocations of 15q1→qter in Prader‐Willi syndrome

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Abstract
We analyzed 33 cases of Prader‐Willi syndrome (PWS) (including 2 personal observations) with translocations of 15q1 → qter onto the terminals of different, apparently whole chromosomes. In all but one of the 23 informative cases the translocations was de novo. Thirty of the patients were unbalanced and 27 had a 45‐chromosome constitution compatible with a 3:1 segregation. One balanced and 2 unbalanced translocations were jumping ones. The possible existence of actual non‐reciporcal translocations in man is indicated by the following considerations about these and other PWS‐associated rearrangements: (1) The observed excess of de novo translocations; (2) the relatively frequent familial occurrence of reciprocal 15q translocations; (3) the concurrence in 3 terminal translocation cases of an idic (15); (4) the visualization of jumping terminal translocations as simple transpositions rather than as successive reciprocal exchanges; (5) the predominance of true isodicentrics in PWS patients with extra inv dup(15) chromosomes; and (6) the rarity of extra derivatives resulting in 15q proximal tertiary trisomy. Additional findings in the present series were normal parental age in the de novo 45‐chromosome cases, an apparently random distribution of telomeric breakpoints, and the occurrence of different breakpoints within the 15q1 region.