• A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
• A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings
• A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient
• Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes
• Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement
• Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3
• Evidence for the inactivation of multiple replicative lifespan genes in immortal human squamous cell carcinoma keratinocytes
• Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features
• Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy
• Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes
• Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome
• Mapping of genetic deletions on the long arm of chromosome 4 in human esophageal adenocarcinomas
• Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
• Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review
• Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature