Clinical manifestations | dup 3q24-q26.31, n = 1, Meins et al. 2005 [14] | Dup 3q25-29, n = 2, Wilson et al., 1978 [15] | Dup 3q29, n = 8, Ballif et al. 2008, Lisi et al. 2008 [16, 17] | Dup 3q26.3, n = 2, Azar et al. 1999 [18], Faas et al. 2002 [13] | Dup3q25-qter, n = 11, ECARUCA [19] | Dup3q27-qter, n = 6, ECARUCA [19] | Dup3q27.1-q29(Present patient) |
---|---|---|---|---|---|---|---|
Growth retardation | |||||||
Prenatal | 2/5 | 1/1 | 2/2 | ||||
Postnatal | 2/5 | 1/ 2 | |||||
Overgrowth | + | ||||||
Microcephaly | 1/1 | 2/2 | 5/8 | 4/11 | |||
Macrocephaly | 1/8 | + | |||||
Dysmorphic facial features | |||||||
Low frontal hairline | 2/2 | 1/8 | 1/ 2 | 2/11 | + | ||
High frontal hairline | 2/2 | + | |||||
Bushy eyebrows | 5/11 | + | |||||
Hypertelorism | 4/11 | 3/6 | + | ||||
Downslanting palpebral fissures | 1/1 | 3/8 | 1/2 | 5/11 | 1/6 | + | |
Epicanthus | 1/1 | 4/11 | 3/6 | + | |||
Wide nasal bridge | 1/2 | 4/8 | 2/2 | 6/11 | 2/6 | + | |
Bulbous nasal tip | 1/1 | 2/2 | 2/2 | 9/11 | + | ||
Prominent philtrum | 1/1 | 1/2 | 5/11 | + | |||
Large or downturned corners of the mouth | 1/1 | 1/2 | 3/8 | 1/2 | 6/11 | + | |
Low-set dysplastic ears | 1/1 | 1/2 | 4/11 | 4/6 | + | ||
Hirsutism | 2/2 | 1/2 | 7/11 | 1/6 | |||
Hands and feet abnormalities | |||||||
Brachydactyly | + | ||||||
V finger clinodactyly | 2/2 | 5/11 | 1/6 | + | |||
Heart defects | 1/1 | 1/8 | 1/2 | 1/11 | + | ||
Urogenital anomalies | 2/11 | 1/6 | + | ||||
Developmental delay | 1/1 | 2/2 | 6/8 | 2/2 | 5/11 | 4/6 | + (mild motor delay) |