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

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

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

ISSN: 1755-8166