Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

BMC Medical Genomics

Table 1 Pathogenic imbalances and UCEs

Case	Imbalance	Chr.	Region	Initial pos.^a (Mb)	Final pos.^a (Mb)	Size (Kb)	Inheritance	Origin	Ultraconserved elements^b
3	Loss	1	q24-25	167.024	172.151	5,000	De novo	Maternal
15	Loss	1	q44	242.638	243.791	1,153	De novo	Paternal	uc.45-uc.46
88	Gain	2	p22.2-23.3	24.374	37.745	13,371	De novo	Paternal	uc.49
C2	Loss	2	q31	177.246	180.516	3,270	De novo	Paternal	uc.109
92	Loss	3	q13.2-13.3	113.681	116.922	3,242	De novo	Maternal	uc.119-uc.122
C1	Loss	3	q29	197.293	198.467	1,174	Inherited	Maternal
18	Loss	5	q14.3	86.142	90.112	3,970	De novo	Paternal	uc.163-uc.167
2	Loss	6	q16	93.933	103.287	9,200	De novo	Paternal	uc.194, uc.195-uc.200, uc.201, uc.202
7	Loss	6	q16	93.930	104.244	10,314	De novo	Paternal	uc.194, uc.195-uc.200, uc.201, uc.202
M2	Loss	7	p21.2	~19.120	~19.700	~580	De novo	n.d.
C4	Gain	7	q11.3	73.481	74.981	1,500	De novo	n.d.
C3	Gain	8	q12	59.536	62.526	2,990	De novo	Paternal	uc.239
78	Loss	11	q13.5	75.730	83.639	7,909	De novo	Paternal	uc.331
16	Loss	13	q32	93.423	98.967	5,544	De novo	Paternal	uc.355, uc.356
C5	Gain	14	q11.2	18.832	23.660	4,828	De novo	Maternal
9	Loss	15	q23	67.908	69.198	1,290	Inherited	Maternal	uc.392
M1	Loss	17	p11.2	~18.400	~20.200	~1,800	De novo	n.d.
M3	Loss	17	q21.31	~41.100	~41.600	~500	De novo	n.d.
63	Gain	19	p13.3	1.904	6.860	4,956	De novo	Maternal
10	Loss	20	q12-13.11	39.463	42.008	2,540	Inherited	Paternal	uc.456
71	Gain	22	q11	17.276	19.230	1,954	Inherited	Paternal	uc.457
41	Gain	X	p11.23	45.063	48.922	3,859	De novo	Paternal
42	Gain	X	p11.22	53.238	54.239	1,001	Inherited	Maternal
14	Gain	X	q28	152.373	153.433	1,060	Inherited	Maternal
54	Gain	X	q28	152.850	153.060	210	Inherited	Maternal
72	Gain	X	q28	152.930	153.230	300	De novo	n.d.

26 pathogenic imbalances detected in our series of patients with idiopathic mental retardation/developmental delay and congenital anomalies.
(a) Position of the first and last altered probes according to hg18 (UCSC)
(b) Nomenclature according to Bejerano et al. (2004). Hyphenation denotes clusters where all the consecutive UCEs are included.

ISSN: 1755-8794