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Table 1 The phenotype of the proband was compared with the clinical features for Monosomy 1qter syndrome and partial trisomy 11q syndrome (as delineated by previous reports)

From: A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Monosomy 1qter syndrome
Previous reports [2, 47]
Proband Partial Trisomy 11q
Previous reports [1, 3]
Proband
General   General  
Mental retardation + Mental retardation +
Growth retardation + Pre and post natal growth retardation +
Microcephaly + Microcephaly +
Hypotonia + Hypotonia +
Seizures + Short stature _
Face   Delayed milestones +
Sparse fine hair +   
Prominent forehead/metopic ridge +   
Upward slanting palpebral fissures + Slanted palpebral fissures +
Epicanthic folds + Epicanthic folds +
Strabismus _   
Flat nasal bridge +   
Short, broad nose + Short nose +
Smooth, long philtrum + Long philtrum +
Thin vermilion + Retracted lower lip _
Downturned corners of the mouth + High arched palate _
Micrognathia + micrognathia +
Cleft palate _ Low set ears +
Abnormal ears + Dysplastic ears +
Other    
Short neck + Short neck +
Cardiac anomaly + Heart defect +
Abnormal hands + micropenis  
Abnormal feet + Dislocation of the hips _
Gastro-oesophageal reflux + Neonatal feeding problem +
Corpus callosum agenesis/hypoplasia + Recurrent upper airway infections +