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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.