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Table 1 Features presented in patients with 1q43 deletion and duplication

From: Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability

Features Patient reported
by Petersen
et al. [12]
Patient in this report
Age, Gender 3 Years 7 Months, Male 14 Years, Male
Coordinates 239,412,391e239,885,394 239,049,010-239,812,310
Cytoband 1q43 1q43
Size 473 kb 763.3Kb
Important genes CHRM3 CHRM3
Origin NA
Microcephaly
Intellectual disability + +
Developmental delay + +
Autistic behavior + +
Seizure
Feeding difficulties + +
Short stature +
Clinodactyly
Strabismus + +
Self-injurious + +
hand anomalie +
Brain MRI Normal Normal