Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects
Table 2
Details of the 10 relevant genomic imbalances detected in biorepository samples from subjects with conotruncal heart defects using array-CGH 60.
Case
Gender/age
Del/Dup
Chromosome region
Genomic coordinates (hg 19)
Size (Mb)
Type of CNV
Heart defect
Associated clinical features
268
M/5 y
Del
1p36.33-p36.32
852863–3800088
2.94
Causal
TOF
Prominent forehead, epicanthic folds, flat, broad, and short nose, and downturned corners of the mouth
56
M/11 y
Dup
1p35.1-p34.3
34174663–35055122
0.88
VOUS
TOF
CNS abnormalities
108
M/18 y
Del
1q21.1-q21.2
146641601–147786706
1.15
Causal
TOF
None
137
M/32 y
Dup
6q25.2
153543129–154567984
1.0
VOUS
TOF
None
376
F/13 y
Del
7p22.3-p22.1
707018–5270759
4.56
Causal
TOF
Hypertelorism, epicanthic folds, and micrognathia developmental delay
126
F/5 y
Del
7q11.21
64691936–65070919
0.37
VOUS
TGA
Minor dysmorphic facial features
360
M/2 y
Del
7q31.1
110980176–111202026
0.22
VOUS
TOF
Bilateral inguinal hernias
49
M/14 y
Del
7q31.1
111201968–111304031
0.10
VOUS
TGA
None
58
M/3 y
Del
22q11.21
18919942–21440514
2.5
Causal
TOF
None
269
F/2 y
Dup
16p11.2
29673954–30197341
0.52
Potentially causal
TOF
None
Age at the time of blood collection; array-CGH: microarray-based comparative genomic hybridization; Del: deletion; Dup: duplication; CNS: central nervous system; CNV: copy number variant; M: male; F: female; TOF: Tetralogy of Fallot; TGA: transposition of great arteries; VOUS: variant of uncertain significance.
