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Table 1 Reported cases with pure distal trisomy 2q overlapping 2q33-2qter

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 + +/− +
  1. Ins, insertion; Inv dup, inverted duplication; Dir dup, direct duplication; Trans dir dup, translocation direct duplication; Sup r, supernumerary ring; Mat., maternal; Pat., paternal.
  2. *The mentally retarded child presented with comparable facial anomalies, hypospadias and bilateral cryptorchidism, but without growth retardation.