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Table 1 Comparison of 17p segmental duplication clinical features among our case and others previously published

From: A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

Paper [22] [3] [3] [3] [4] [21] [21] [21] [23] [7] [24] [24] [24] Present Study
Patient reference Patient 7 Patient 1 Patient 2 Patient 3 Patient 10 Patient 12 Patient 13 Patient 15 Patient 1 Patient 1 Patient 1 Patient 2 Patient 3 Patient 1
Size of duplication, Mb 3.6 1.8 3 4 2 3.4 2.78 2.16 5.7 3.9 4.2 4.2 4.2 10.5
Age at diagnosis, years 10 14 1 1 6.5 28 1.1 14 1.4 4 40 39 31 2.3
Gender F M F M M F M F F M M F F F
Birth height, cm 53 53 NA 50 Normal NA NA NA 55 51 NA NA NA 52
Birth weight, g 3060 3350 4200 3380 Normal NA NA NA 2680 3200 3200 2800 2700 3350
Cranio-facial dysmorphism hypotonic face + + + NA + + NA + NA NA NA +
High forehead + + + NA NA + NA + NA NA NA +
Hypertelorism + + + + + + + +
Broad nasal bridge + + + NA + NA + + + + +
Small mouth Normal Normal + + Prominent cupid bow + + + + + + + +
Low-set-ears + + NA NA + NA + + + + +
Triangular chin NA + + + + + + + + + +
Neck appearance Normal Normal Short Short Normal NA NA NA NA NA NA NA Short
Neurological features hypotonia + + + + NA + NA + + + +
Delayed mental development + + + + LD Mild LD Mild LD + + + + + +
Delayed motor development + + + + + NA + + + + + + +
Abnormal behavior + + + + Autism + Autism
Brain imaging results Reduced brain size, corpus callosum hypoplasia, cerebellar agenesis Normal NA Dilated lateral ventricles/corpus callosum agenesis NA NA Thin corpus callosum, cerebellar vermis hypoplasia NA Normal Polymicrogyria NA NA NA NA