Fig. 1

The structure of the derivative chromosomes der(2), der(5) and der(22), and their segregation. (a) In addition to the translocation of segments between chromosomes 2 and 22, a 1.42 Mb segment from 2p14 was found to be inserted into 5p15.1, where a 1.47 Mb deletion was detected; two other segments at 5p15.1, and one segment at 5p15.1-p14.3 was also rearranged on the der(5), one of them distal and two proximal to the 2p14 insertion; on chromosome 22 a duplicated segment of 6.64 Mb from 5q23.2-q23.3 was inserted into the breakpoint. Arrows point to breakpoints; localization of the resulting fragments is indicated at right. (b) The rearranged chromosomes – der(2), der(5) and der(22), were present in the proband (III-4), his mother (II-4), aunt (II-3) and grandmother (I-2), who therefore carried a 5p15 deletion and a 5q23.2q23.3 duplication; the proband’s affected brother (III-3) and uncle (II-6) inherited the der(2) and der(22), thus carrying a 2p14 deletion and a 5q23.2 duplication; the proband’s clinically normal brother (III-5) inherited only the der(5), and had a 2p14 duplication and a 5p15 deletion