Table 3

Cytogenetic and methylation data in patients with SRS/BWS carrying 11p15 duplications

Patient	Breakpoints of the duplication (hg19)	Size (Mb)	Allele	Clinical features	Methylation status (% of methylated allele)	Inheritance	Chromosomal rearrangement (FISH and karyotyping)
1. Duplications spanning both domains
Patient 1	chr11:203 789–3 576 742	3.5	Paternal	BWS	ICR1 67/ICR2 34	Paternal	der(4)t(4;11)(p16.3;p15)
Patient 2	chr11:198 510–3 663 201	3.4	Paternal	BWS	ICR1 68/ICR2 36	De novo	der(8)t(8;11)(q24.3;p15)
Patient 3	chr11:1 972 205–3 413 150	1.4	Maternal	SRS	ICR1 39/ICR2 68	NA	dup(11)(p15.5p14)
Patient 4	chr11:206 767–6 626 675	6.4	Maternal	SRS	ICR1 36/ICR2 64	Maternal	der(19)t(11;19)(p15.4;p13.3)
Patient 5	chr11:198 510–3 488 541	3.5	Maternal	SRS	ICR1↓/ICR2 ↑ *	De novo	der(8)t(8;11)(p23.1;p15.4)
Patient 6	chr11:198 510–4 472 880	4.2	Maternal	SRS	ICR1 ↓/ICR2 ↑*	De novo	rec(11)dup(11p15)inv(11)(p15.4;q25)
2. Duplications of the whole ICR1 and partial duplication of ICR2
Patient 7	chr11:198 510–2 763 228	2.5	Paternal	BWS	ICR1 68/ICR2 36	paternal	der(10)t(10;11)(q26.3;p15.5)
Father of patient 7	chr11:198 510–2 763 228	2.5	Maternal	Not affected	ICR1 32/ICR2 63	NA	der(10)t(10;11)(q26.3;p15.5)
3. Complete duplications of ICR1
Patient 8	chr11:203 789–2 420 500	2.4	Paternal	BWS	ICR168/ICR2 47	De novo	der(Y)t(Y;11)(p11.2;p15.5)
Patient 9	chr11:1 413 817–2 312 237	0.9	Paternal	BWS	ICR1 66/ICR2 54	NA	NA
Patient 10	chr11:1 562 713–2 220 754 chr11:2 241 272–2 511 527	0.66 0.27	Paternal	BWS	ICR1 67/ICR2 51	NA	NA
Patient 11	chr11:1 874 072–2 306 026	0.43	Paternal	BWS	ICR1 70/ICR2 51	NA	NA
Patient 12	chr11:1 472 605–2 250 713	0.78	Paternal	BWS	ICR1 68/ICR2 50	NA	NA
4. Partial ICR1 duplication
Patient 13	chr11:1 782 594–2 110 067	0.32	Maternal	SRS	ICR1 33/ICR2 51	Maternal	NA
5. Complete ICR2 duplications
Patient 14	chr11:2 219 963–3 657 047	1.4	Maternal	SRS	ICR1 51/ICR2 64	Maternal	dup(11)(p15.5p15.4)
Patient 15	chr11:2 219 963–3 657 047	1.4	Maternal	SRS	ICR1 50/ICR2 63	Maternal	dup(11)(p15.5p15.4)
Patient 16	chr11:2 219 963–3 657 047	1.4	Maternal	SRS	ICR1 50/ICR2 64	Maternal	dup(11)(p15.5p15.4)
Patient 17	chr11:2 329 078–3 265 951	0.97	Maternal	SRS	ICR1 52/ICR2 64	Maternal	dup(11)(p15.5p15.4)
Mother of patients 14 and 15	chr11:2 219 963–3 657 047	1.4	Paternal	Not affected	NA	Paternal	dup(11)(p15.5)
Grandfather of patients 14 and 15	chr11:2 219 963–3 657 047	1.4	Paternal	Not affected	ICR1 36/ICR2 52	NA	dup(11)(p15.5)
Mother of patient 17	chr11:2 329 078–3 265 951	0.97	Paternal	Not affected	ICR1 49/ICR2 35	NA	NA
6. Partial ICR2 duplications
Patient 18	chr11:2 498 260–2 776 448	0.27	Maternal	BWS	ICR1 52/ICR2 36	Maternal	NA
Patient 19	chr11:2 631 304–2 900 418	0.27	Maternal	BWS	ICR1 51/ICR2 15	NA	NA

*Patients for whom methylation analyses have been previously done, but with no available value of methylation indices.
BWS, Beckwith-Wiedemann syndrome; ICR, Imprinting Control Region; NA, not available; SRS, Silver-Russell syndrome.