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.