Table 1 Array based comparative genomic hybridisation (CGH) results, genomic imbalance and parental origin of the 33 cases
CaseRingArray resultsGenomic imbalance*Parental origin
Case 1 (AM)r4del 4p15.1pterdel 4p: 28.5 Mbnt
Case 2 (SS)r5del 5q35.3qterdel 5q: 0.6 Mbnt
Case 3 (FT)r13del 13q31.3qterdel 13q: 26.5 MbPaternal
Case 4 (SF)r13del 13q32.1qterdel: 18.2 MbMaternal
Case 5 (GJ)r13dup del 13qdel 13q: 5.8 Mbdup 13q: 5.9 MbPaternal
Case 6 (PS)r13del 13q33.3qterdel: 8.2 Mbnt
Case 7 (AG)r13inv dup del 13qdel 13q: 10 Mbdup 13q: 20 MbPaternal
Case 8 (MR)r13del 13q34qterdel 13q: 4.5 Mbnt
Case 9 (MA)r13del 13q31.1qterdel 13q: 33.7 MbPaternal
Case 10 (AV)r13dup del 13qdel 13q: 10 Mbdup 13q: 22.8 Mbnt
Case 11 (BR)r13del 13q33.2qterdel 13q: 9.97 Mbnt
Case 12 (DJ)r15del 15q26.3qterdel 15q: 2.3 MbPaternal
Case 13 (FD)r15inv dup del 15qdel 15q: 5 Mbdup 15q: 2 MbPaternal
Case 14 (TS)r15del 15q26.3qterdel 15q: 4.8 MbPaternal
Case 15 (BT)r15del 15q26.3qterdel 15q: 4.6 MbPaternal
Case 16 (PM)r15del 15q26.3qterdel 15q: 4.9 MbPaternal
Case 17 (MM)r15del 15q26.3qterdel 15q: 3.8 MbMaternal
Case 18 (MG)r15del 15q26.3qterdel 15q: 2.2 MbMaternal
Case 19 (CC)r15del 15q26.3qterdel 15q: 2.1 Mbnt
Case 20 (AM)r15del 15q26.3qterdel 15q: 1.6 MbPaternal
Case 21 (LM)r18dup del 18pdel 18q22.1qterdel 18p: 207.5 kbdup 18p: 5.4 Mbdel 18q: 12.8 Mbnt
Case 22 (SE)r18del 18pterp11.12del 18q22.3qterdel 18p:11.7 Mbdel 18q: 6.7 MbPaternal
Case 23 (FN)r18dup 18pdel 18q23qterthe whole 18p dup: 15.4 Mbdel 18q: 882 kbPaternal
Case 24 (TE)r18del 18p11.21qterdel 18q22.3qterdel 18p: 13.7 Mbdel 18q: 5.5 Mbnt
Case 25 (GF)r18del 18p11.32pterdel 18q22.3qterdel 18p: 1 Mbdel 18q: 5.4 MbMaternal
Case 26 (TM)r18dup del 18p;del 18q22.3qterdel 18p: 500 kbdup 18p: 14.8 Mbdel 18q: 7.8 Mbnt
Case 27 (GM)r20No imbalances
Case 28 (CM)r20No imbalances
Case 29 (NA)r20No imbalances
Case 30 (GA)r21dup 21q21.3q22.2trp 21q22.2q22.3dup 21q: 11.2 Mbtrp 21q: 5.8 Mbnt
Case 31 (KJ)r22del 22q13.31qterdel 22q: 3.1 MbMaternal
Case 32 (MD)r22del 22q13.32qterdel 22q: 2.6 MbPaternal
Case 33 (AM)r22dup del 22qdel 22q: 946 kbdup 22q: 785 kbMaternal
  • *Map positions are based on genome the Assembly May 2004; nt, not tested.