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Table 1 Clinical characteristics of previously reported cases with overlapping duplications

From: Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

Case ID Our case 1 Our case 2 DECIPHER 323264 DECIPHER 258333 Mimouchi-Bloch A, et al. (ref) DECIPHER 1570 DECIPHER 265052
Coordinates of duplications (hg19) Chr2:60113626_62111114 Chr2:60308869_62368583 Chr2:60236241–61,848,845 Chr2:59938734–62,025,519 Chr2:60150427_61816209 Chr2:60648296–61,568,645 Chr2:60541781–61,952,880
Chromosome band 2p16.1p15 2p16.1p15 2p16.1p15 2p16.1p15 2p16.1p15 2p16.1p15 2p16.1p15
Gender* M, 3y M, 5y F, 15y M M, 5y F, 3y F, 7y
Developmental delay +** + + + + + +
Speech delay + + + + + + +
Intellectual disability + + + + mild + -
Autism - - - - - (ADHD) - -
Craniofaci al signs   Macrocephaly   Macrocephaly    
Forehead Receding forehead   -    Frontal bossing -
Eyes Epicanthal folds
Straight eyelashes, sparse eyebrows
Upslanted palpebral fissures -   Puffy eyelids Blepharophimosis
Upslanted palpebral fissures
-
-
Nose Broad and high nasal bridge Concave nasal bridge -    Wide nasal bridge -
Ears    -   Right earlobe   
Mouth Pronounced philtrum
Pronounced Cupid’s bow
Pronounced philtrum
Pronounced Cupid’s bow
- Small ears sinus
Broad philturm
Low-set ears
Thin upper
 
   and lower lip vermilion
Micrognathia
 
Other Cardiovascular Atrial septum defect Atrial septum defect
Hypotonia + + - + - - -
Other Clinodactyly of the 5th finger, bilaterally 2nd-3rd toes syndactyly Clinodactyly of the 5th finger Epilepsy
Obesity
Recurrent infections
Abnormality of erythrocytes
Small hands
Visual impairment Short stature
Short palm
Tapered fingers
2nd-3rd toe syndactyly
Obesity
Arthritis
Precocious puberty
  1. * M male, F female, ** + present, − not reported