Table 1 Clinical Feature of Patients With Deletion in 81.6–88.9mb on Chromosome 10
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
Short staure* | – | – | – | – | – | – | + | + | – | – |
Developmental delay | + | + | + | + | – | + | + | + | + | + |
Austism | + | – | + | – | – | – | – | – | – | – |
Speech delay | + | NA | + | + | – | + | – | – | + | + |
OFC | P97 | P97 | NA | NA | NA | Macrocephaly | P10 | P2 | P84 | P50 |
Cardiac defect | NA | NA | PDA | – | – | – | – | AVSD | – | – |
Reference | Balciuniene et al. [2007] | Balciuniene et al. [2007] | Alliman et al. [2010] | Alliman et al. [2010] | Alliman et al. [2010] | Alliman et al. [2010] | Van Bon et al. [2011] | Van Bon et al. [2011] | Van Bon et al. [2011] | Our case |
Dysmorphsims and congenital anomalies | Minor features | Ventricular structural abnormalities | Micrognathia High-arched palate Thin upper lip Wide spaced eyes Arachnodactyly Joint hyperextensibility | Hypotonia High palate Wide spaced eyes earlobe creases Prognathic mandible Rectal bleeding | Clubfeet Hearing loss Wide spaced eyes Low set ears Mild hypotonia | Small ears Wide spaced eyes Small mouth Retrognathia Mild hypotonia | Ptosis Low set small ears Hypotelorism Broad thumbs Broad halluxes Breast aplasia | Telecanthus Low set ears Hypertelorism Antervered nares Flat nasal bridge Large mouth | Low set ears Hypertelorism Radioulnar synostosis Scoliosis Kyphosis Pectus excavatum Café-au-lait spots | Clubfeet Low set ears Flat nasal bridge Wide spaced eyes Adenoid hypertrophy |