Table 1 Clinical findings and molecular genetic analysis in patients with isolated CNVs of distal 4q35.2 microdeletion (Literature review)
References | Age/Sex | Deletion | Size | Inheritance | Clinical features |
|---|---|---|---|---|---|
Karaman et al. [12] | 2years/F | 4q35.2 (Homozygous) | 204.947 kb | Parental | Various facial dysmorphic features, developmental delay, postnatal growth retardation, intellectual disability, and seizures |
Cuturilo et al. [13] | 2years2months/M | 4q34.1q35.2 | 17.4 Mb | De novo | Tetralogy of Fallot, right aortic arch and facial dysmorphism |
Pickard et al. [14] | NA | 4q35.2 | 3.0 Mb | NA | Comorbid schizoaffective disorder and mild intellectual disability |
Rossi et al. [15] | 17years/F | 4q34.1q35.2 | 16.435 Mb | De novo | Developmental delay, learning disability, ADHD, primary amenorrhea, myopia, and minor facial dysmorphic features, clinodactyly of the left and right fifth toes |
Youngs et al. [16] | 12years/M | 4q35.2 | 1.2 Mb | NA | Facial dysmorphic features, fifth finger clinodactyly, hyperflexible, toe, malalignment, ADHD, aggressive behavior |
Balikova et al. [17] | 7years/M | 4q35.2 | 1.3 Mb | Maternal | Mild intellectual disability |
Fu et al. [18] | Fetus | 4q35.2 | 1.58 Mb | NA | Bilateral multicystic dysplastic kidneys |
Xiao et al. [19] | Fetus | 4q35.1q35.2 | 4.5 Mb | Maternal | Fetal growth restriction without significant abnormalities |
Riccardi et al. [11] | 39years/M | 4q35.2 | 269.34kb | NA | Crohn’s disease |
Present study | 17years/M | 4q35.2 | 2.0 Mb | Maternal | Motor developmental delay, abnormal posturing, learning disability, ADHD, involuntary movements, and upper eyelid ptosis |