From: Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome
References | Duplication size | Type of rearrangement | Origin | Phenotype | ||
---|---|---|---|---|---|---|
Developmental delay | Facial/visceral anomalies | Trunk and limb malformations | ||||
Dennis et al., [8] | 2q33-2q37 | Ins 12q23 | Pat. | + | +/+ | + |
Yu and Chen, [9] | 2q34-2q37 | Inv dup | De novo | + | +/− | + |
Kyllerman et al., [10] (2 cases) | 2q34-2qter | Inv dup | Pat. | + | +/+ | + |
Dahoun-Hadorn and Bretton-Chappuis, [11] | 2q35-2qter | Inv dup | De novo | +* | +/+ | + |
Romain et al., [12] | 2q33.1-2q35 | Dir dup | De novo | + | +/− | + |
Fritz et al., [13] | 2q35-2q37.1 | Ins 17q25 | De novo | + | +/+ | + |
Seidahmed et al., [14] | 2q32-2q37 | Inv dup | De novo | + | +/+ | + |
Angle et al., [15] | 2q34-2qter | Inv dup | Mat. | + | +/+ | + |
Bonaglia et al., [16] | 2q33-2q37 | Inv dup | De novo | + | +/+ | + |
Bird and Mascarello, [17] | 2q33.1-2q37.1 | Dir dup | De novo | + | +/+ | + |
Slavotinek et al., [18] | 2q33-2q37.3 | Inv dup | De novo | + | +/− | + |
Hermsen et al., [4] | 2q35-q37.3 | Trans dir dup | De novo | + | +/− | + |
Pietrzak et al., [19] | 2q35-q36 | Sup r | De novo | + | +/− | + |