Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Table 3 Details of abnormalities found using the MLPA subtelomere kit

Patient	Age	MLPA ST	Follow-up
24	7	del 2q (1), dup 22q (2)	confirmed by FISH
19	3	del 3p (1)
27	11	del 3p (2)	carried by maternal aunt
17	2	del 4q (1)
26	22	dup 5q (2)
30	3	dup 5q (2)
29	6	dup 6p (2)	carried by affected sister
28	3	dup 8p (1)	confirmed by FISH
16	3	del 8p (2)	confirmed by FISH
31	35	del 8p (1)
18	9	dup 9p (1), dup XYp (2), del XYq (2)	9pdup maternal, abnormal Y confirmed by FISH
21	4	dup 9p (1)	maternal
25	2	dup 9p (1)	paternal
20	7	dup 16p (1)	maternal
32	1	dup 21q (1)
22	2	dup XYp (2)	paternal
23	2	dup XYq (2)	confirmed by FISH
3	5	dup 7q (2), del 10q (2)	abnormal karyotype
6	1	dup XYp, dup XYq	abnormal karyotype
10	2	dup XYp, dup XYq	abnormal karyotype
4	1	del 20p	abnormal karyotype
9	1	XXY	abnormal karyotype

Numbers in parentheses indicate the number of probes showing abnormal copy number. "confirmed by FISH" indicates that a probe for the relevant subtelomere region showed a concordant result.

ISSN: 1755-8166