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Table 3 Details of abnormalities found using the MLPA subtelomere kit

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

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
  1. 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.