Table 1

Clinical features of patients with ring chromosome 2 or deletion of 2p

Sutherland and Carter1 Maraschio et al2 Maraschio
et al2
Maraschio et al2 Vigfusson et al3 Côté
et al4
Jansen
et al5
Wyandt et al6 Lacassie et al7 Present report Francis
et al15
Estimated breakpointsp25q37p25q37p25q37 t(2/6)?p25q37p25q37p25q37p25.2q33.2p25q37.3p25q37del(2)(p24)
IUGR+++++++++
Postnatal growth retardation+++++++++++
Microcephaly+++++++++++
Poor feeding+++
Developmental delay++++++++++
Flat occiput++++
Bulging metopic suture+++
Arched eyebrows++
Upward slanting eyes++++
Hypertelorism+++
Epicanthic folds++++++++++
Flat nasal bridge++++++
Long philtrum+++
Micrognathia++++++
High arched palate+++
Low set ears++++
Short neck++++
Single palmar crease(s)++++
Clinodactyly++++++
Widely spaced nipples+++
Cardiac malformation++++
Hypogenitalism++++++
Foot deformities+++
Café au lait spots++
Skeletal abnormalities+++
Joint laxity++
  • + = feature present. − = feature absent. Blank = not mentioned.