12-year-old boy with a 4q35.2 microdeletion and inwolwement of MTNR1A, FAT1, and F11 genes

摘要

Deletion of the long arm of chromosome 4 has been reported with variable clinical findings including developmental delay and intellectual disability. We report an individual with a 4q35.2 deletion (1.2 Mb in size) detected by chromosomal microarray analysis which, to our knowledge, is the first individual with a submicro-scopic interstitial deletion identifying three genes implicated in -his clinical presentation and findings.