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. 2014 Sep 9;9(9):e107028. doi: 10.1371/journal.pone.0107028

Table 1. Comparison of the clinical features of male patients with deletion in 2p14-p16.1 that encompasses OTX1.

Subjects 1 2 3 4 5 6 7 Rajcan et al. Hancarova et al.
Size of Deletion (Mb) 0.07 5.05 2.39 6.31 4.59 2.75 3.02 7.89 3.72
Chromosome Localization 2p15 2p15p14 2p16.1p15 2p16.1p14 2p16.1p14 2p15p14 2p15p14 2p16.1p15 2p15p14
Genomic Region (Mb, hg18) 63.13–63.20 62.82–67.87 60.98–63.37 59.92–66.23 60.91–65.51 61.42–64.17 62.74–65.76 55.33–63.23 62.01–65.73
General
Age at Evaluation (years) 10 4 9 1.75 16 14 4 7 4
Sex Male Male Male Male Male Male Male Male Male
Developmental Delay - + + + + + + + +
Seizures - - + - + - - - -
Feeding Problems - - + + + - - + +
Vision Problems - + + - - - + + +
Recurrent Ear Infections - + + - - + - - -
Short Stature - - + - - + - + -
Microcephaly - - - + + - - + +
Hypotonia - + + + - + - - +
Urological Features
Bladder Exstrophy + - - - - - - - -
Epispadias + - - - - - - - -
VUR + - - - - - - + -
Cryptorchidism - + + - - - + - +
Small Testes - - + - - + + + -
Absent Foreskin - + - - - - - - -
Scrotal anomalies - - + + - - - - -
Micropenis - - + + - - - + -
Kidney Abnormalities - - + - - - - + -
Facial Features
Flattened Occiput NM - + - + - NM + +
Metopic Ridging NM + + NM NM - NM + -
Ptosis NM - + - + - + + -
Slanted Palpebral Fissures NM - + + NM - + + -
Epicanthal Folds NM + + + NM + NM + -
Prominent Nose NM + + + + - + + +
Long, Straight Eyelashes NM - + NM NM + NM + -
Large Ears NM + + NM - - + + +
Thin Upper Lip NM + - - - - + - +
Other
Nipple Abnormalities NM - - NM + - - + -
Pes Planus NM - + - + - + - -
Attention Deficit Behavior NM - - NM + + NM + +

VUR  =  vesicoureteral reflux; NM  =  not mentioned.