Table 1. Results of cytogenetic and molecular analysis in 63 study patients.

	Origin of	Age at diagnosis		Conventional	Array CGH analysis
Patient ID	deletion/heredity	of Rb in months	Rb Phenotype	Cytogenetic analysis	Proximal breakpoint	Distal breakpoint	Location and size of deletion
Patients with a small deletion
3 (father of 5,6)	Paternal, n.k.	n.k.	Unilateral retinal scar	46, XY	45362825–48363232a	48696986–48697628a	13q14.12q14.2, 3.33 Mb
5 (son of 3)	Paternal, inherited	18	Bilateral	46,XY,del(13)(q14.2q14.2)	n.p.	n.p.	13q14.12q14.2, 3.33 Mb
6 (son of 3)	Paternal, inherited	1	Unilateral	n.p.	n.p.	n.p.	13q14.12q14.2, 3.33 Mb
15	Maternal, de novo	8	Bilateral	46, XX	47709742–47709919a	48590296–48596709a	13q14.2, 0.89 Mb
17	Maternal, n.k.	24	Bilateral	46, XX	47946955–47948489a	47956038–47956506a	13q14.2, 7.99 kb
19	Paternal, de novo	5	Bilateral	46, XY	46405919–46420133a	49151941–49151998a	13q14.2q14.3, 2.75 Mb
21	Maternal, de novo	11	Bilateral	46, XY	47672542–47681006a	47912363–47912496a	13q13.2, 0.24 Mb
26	Paternal, de novo	n.r.	Bilateral	n.p.	47635376–47636676a	47808181–47812029a	13q14.2, 0.18 Mb
34	Paternal, de novo	14	Bilateral	n.p.	47915282–47917513a	48068498–48071869a	13q14.2, 0.15 Mb
35	Paternal, de novo	9	Bilateral	46, XY	47743725–47746919a	50149499–50149928a	13q14.2q14.3, 2.41 Mb
36	Paternal, de novo	18	Unilateral	n.p.	46963616–46963771a	48367780–48368525a	13q14.2, 1.41 Mb
38 (nephew of 39)	Maternal, inherited	5	Unilateral	46,XY,del(13)(q14.2q14.2)	47485354–47485997a	48659232–48659286a	13q14.2, 1.17 Mb
39 (aunt of 38)	Paternal, inherited	n.k.	Unilateral retinal scar	46,XX,del(13)(q14.2q14.2)	n.p.	n.p.	13q14.2, 1.17 Mb
47	Maternal, de novo	2	Bilateral	46, XX	47710100–47710396a	47849823–47851046a	13q14.2, 0.14 Mb
49	n.k.	n.r.	Bilateral	46, XX	47772350–47772827a	47776329–47776560a	13q14.2, 4.21 kb
50	Maternal, inherited	n.r.	Bilateral	n.p.	47888152–47894725a	47996364–47996791a	13q14.2, 0.11 Mb
52	Paternal, de novo	n.r.	Bilateral	46, XX	47072184–47073478a	49029921–49032229a	13q14.2q14.3, 1.96 Mb
55	Maternal, inherited	n.r.	Bilateral	n.p.	47272350–47272781a	48734057–48735946a	13q14.2, 1.46 Mb
57	Paternal, de novo	16	Unilateral	46, XX	46054012–46054336a	51272913–51275120a	13q14.2q14.3, 5.22 Mb
60 (mother of 63)	Paternal, inherited	—	No Rb	46, XX	47143683–47143754a	481545510–48154565a	13q14.2, 1.01 Mb
63 (son of 60)	Maternal, inherited	n.r.	Unilateral	46, XY	n.p.	n.p.	13q14.2, 1.01 Mb
62 (son of 74)	Paternal, inherited	8	Bilateral	46, XY	46379866–46379925a	48256793–48258148a	13q14.2, 1.88 Mb
74 (father of 62)	n.k.	n.r.	Bilateral	n.p.	n.p.	n.p.	13q14.2, 1.88 Mb
64	Paternal, de novo	10	Bilateral	46, XY	n.p.	n.p.
70 (daughter of 73)	Maternal, inherited	42	Unilateral	46,XX,del(13)(q14.2q14.2)	46317606a	48052536a	13q14.2, 1.74 Mb
73 (mother of 70)	Paternal, n.k.	30	Unilateral	46, XX	n.p.	n.p.	13q14.2, 1.74 Mb
82	Paternal, de novo	9	Bilateral	46, XX	n.p.	n.p.
Patients with a medium deletion
9	Maternal, de novo	32	Bilateral	46,XY,del(13)(q14.2q21.2)	40733729–40790137b	60179935–60193507b	13q14.11q21.2, 19.46 Mb
10	Paternal, de novo	15	Unilateral	46,XY,del(13)(q14q21.1)	43497450–43497509a	59492754–59502019b	13q14.11q21.2, 16.01 Mb
12	Maternal, de novo	30	Bilateral	46,XX,del(13)(q13q14.2)	43346651–43346827a	53285970–53286216a	13q14.11q21.1, 9.94 Mb
13	Maternal, de novo	5	Bilateral	46,XX,del(13)(q12.3q14.3)	32292404–32318179b	49897351–49937528b	13q13.1q14.3, 17.65 Mb
14	Maternal, de novo	5	Unilateral	46,XX,del(13)(q14q14)	42337828–42348574a	55546169–55564116b	13q14.11q21.1, 13.23 Mb
18	Maternal, de novo	4	Unilateral	46,XY,del(13)(q14.1q14.2)	42337769–42348630a	55034743–55044198b	13q14.11q21.1, 12.71 Mb
40	Paternal, de novo	3	Bilateral	46,XY	43386853–43388686a	53749602–53764680a	13q14.11q21.1, 10.38 Mb
41	Paternal, de novo	18	Unilateral	46,XY,del(13)(q13q14.3)	36576884–36621396b	48717057–48717116a	13q13.3q14.2, 12.14 Mb
42 (daughter of 43)	Paternal, inherited	2	Bilateral	46,XX,del(13)(q14q14)	41390788–41398008a	48224780–48229293a	13q14.11q14.2, 6.84 Mb
43 (father of 42)	Paternal. n.k.	24	Unilateral	46,XY,del(14)(q14.2q14.2)	n.p.	n.p.	13q14.11q14.2, 6.84 Mb
45	Paternal, de novo	15	Bilateral	46,XY,del(13(q14.1q14.2)	40667660–40732744b	49535641–49535700a	13q14.11q14.3, 8.87 Mb
51	Paternal, de novo	18	Bilateral	46,XY,del(13)(q14.1q14.3)	41516365–41516844a	48840695–48841046a	13q14.11q14.2, 7.32 Mb
56	Paternal, n.k.	n.r.	Bilateral	n.p.	47936652–47937062a	63956349–63978332b	13q14.2q21.31, 16.04 Mb
58	Paternal, de novo	12	Bilateral	46,XY,del(13)(q14.1q14.2)	40370025–40431052b	47875264–47875323a	13q14.11q14.2, 7.51 Mb
61	Paternal, de novo	6	Bilateral	46,XX,del(13)(q14q21.1)	n.p.	n.p.
68	Paternal, de novo	2	Bilateral	46,XX,del(13)(q12.3q14.3)	37071383–37093430b	53807548–53854488b	13q13.3q21.1, 16.78Mb
Patients with a large deletion
4	Paternal, n.k.	8	Bilateral	n.p.	39671015c	73097233c	13q14.11q22.1, 33.43 Mb
7	Paternal, de novo	17	Bilateral	46,XX,del(13)(q12.3q21)	37466693–37501000b	65918879–65948122b	13q13.3q21.32, 28.48 Mb
8	Paternal, de novo	3	Bilateral	46;XY,del(13)(q14q22)	n.p.	n.p.
11	Paternal, de novo	1	Bilateral	46,XY,del(13)(q12.3q22.1)	n.p.	n.p.
16	Paternal, de novo	4	Unilateral	46,XX,del(13)(q12.3q14.3)	29036036–29045596b	52932732–52983296b	13q12.3q21.1, 23.95 Mb
20	Paternal, de novo	1	Bilateral	46,XX,del(13)(q14.11q31.2)	n.p.	n.p.
22	Maternal, de novo	10	Bilateral	46,XX,del(13)(q14q21)	42331613–42359229b	65608944–65621171b	13q14.11q21.32, 23.29 Mb
24	Maternal, de novo	9	Bilateral	46,XX,del(13)(q14.11q22)	n.p.	n.p.
25	Paternal, de novo	n.r.	Bilateral	46,XX,del(13)(q14.1q22)	n.p.	n.p.
27	Paternal, de novo	n.r.	Bilateral	46,XY,del(13)(q12.3q21.2)	n.p.	n.p.
48	Paternal, de novo	14	Bilateral	46,XY,del(13)(q12q21.32)	n.p.	n.p.
54	Paternal, de novo	9	Bilateral	46,XY,del(13)(q13.1q21.1)	33775711–33790664b	54656139–54662257b	13q13.2q21.1, 20.88 Mb
65	Paternal, de novo	6	Bilateral	46,XX,del(13)(q13q21.1)	n.p.	n.p.
66 (mother of 67)	Paternal, de novo	10	Bilateral	46,XX,del(13)(q12.3-21.1)	n.p.	n.p.
67 (son of 66)	Maternal, inherited	8	Unilateral	46,XY,del(13)(q12.3-21.1)	n.p.	n.p.
71	Paternal, de novo	18	Unilateral	46,XX,del(13)(q14.1q21.3)	n.p.	n.p.
72	Paternal, de novo	84	Unilateral	46,XX,del(13)(q14.1q22)	n.p.	n.p.
76	Paternal, de novo	3	Unilateral	46,XY,del(13)(q12q21)	n.p.	n.p.
77	Paternal, de novo	10	Unilateral	46,XX,del13(q14q22)	n.p.	n.p.
81	Paternal, de novo	22	Bilateral	46,XY(13)(q13.3q31.2)	n.p.	n.p.

Abbreviation: n.k., not known; n.p., not performed.

^aCustom made high-resolution oligonucleotide CGH Microarray Kit 4 × 44K Agilent Technologies.

^bAffymetrix 250K Nsp Array.

^cAgilent Human genome CGH Microarray Kit 244K (based on NCBI Build 36.1 March 2006, hg 18).