Bi et al. Patient 7(2009) | Roos et al. Patient 1 (2009) | Roos et al. Patient 2 (2009) | Roos et al. Patient 3 (2009) | Bruno et al. Patient 10(2009) | Hyon et al. (2011) | Avela et al. (2011) | Ruiz Esparza-Garrido et al. (2012) | Our patient | |
---|---|---|---|---|---|---|---|---|---|
Chromosomal abnormality | duplication | interstitial duplication | terminal duplication | terminal duplication | interstitial duplication | t(X;17) | ins(4;17) | t(10;17) | t(5;17) |
Inheritance | de novo | de novo | de novo | de novo | de novo | ? | de novo | from father | from mother |
Size of duplication, Mb | 3,6 | 1,8 | 3 | 4 | 2 | 4,2 | 7 | 3,22 | 3,1 |
Age at diagnosis, years | 10 | 14 | 1 | 1 | 6,5 | 13 | 5 | 0,5 | 6 |
Sex | F | M | F | M | M | F | F | F | F |
Birth Height, cm | 53 | 53 | NA | 50 | normal | normal | 45 | 51 | NA |
Birth weigth, g | 3060 | 3350 | 4200 | 3380 | 2670 | normal | 2570 | 3000 | NA |
Current Height | +1SD | +3,5SD | normal | +1SD | normal | +1SD | NA | 50–75th percentile | 111 cm (10–25th percentile) |
Current weigth | +2SD | +1SD | −2SD | +1SD | −1,5SD | +1SD | NA | 25th percentile | 17 kg (10th percentile) |
Craniofacial features | |||||||||
Current head circumference | −1,5SD | NA | + | +2SD | −0,8 SD | +1SD | NA | 37 cm (<3rd percentile) | 50 cm (10–25th percentile) |
Hypotonic face | – | + | + | + | NA | + | + | – | – |
Broad midface | – | – | + | + | NA | + | + | – | + |
Low seat ears | – | + | + | – | NA | – | + | – | + |
Frontal bossing | – | + | + | + | NA | – | + | – | – |
Triangular chin | NA | – | + | + | + | + | + | + | + |
Downslanting palpebral fissures | – | + | + | – | + | + | + | – | + |
Hypertelorism | – | + | + | + | – | + | + | + | + |
Broad nasal bridge | – | + | + | + | – | + | + | + | + |
Strabismus | + | – | – | – | – | – | – | + | – |
Abnormalities of the philtrum and mouth appearance | normal | normal | small | small | prominent cupid bow | small | normal | normal | small |
Neck appearance | normal | normal | short | short | normal | normal | short | + | normal |
Cleft lip and palate | – | – | – | – | – | + | + | – | – |
Clinodactyly | – | – | + | – | – | + | + | + | + |
Hip luxation | – | – | – | + | – | – | NA | – | – |
Equinovalgus | – | – | – | right | – | – | – | + | – |
Hirsutism/Hypertrichosis | – | – | – | – | – | – | – | – | + |
Neurological | |||||||||
Hypotonia | – | + | + | + | + | + | + | – | – |
Speech delay | + | + | + | + | – | + | + | + | + |
Feeding difficulties | – | – | + | – | + | – | + | – | + |
Delayed mental development | + | + | + | + | – | + | + | + | + |
Abnormal behavior | + | + | + | + | autism | + | + | + | + |
Hypothyroidism at birth | – | – | – | – | – | – | – | – | + |