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Table 2 Comparison of 17p segmental duplication clinical features among our case and others previously published (modified in part by [23])

From: A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

  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 +