• 'Pure' partial trisomy 4q26-->q35.2 resulting from a familial unbalanced translocation t(4;10)(q26;q26.3)
• <em>SORBS2</em> is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients
• "Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion
• 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency
• 4q21 microdeletion in a patient with epilepsy and brain malformations
• 4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report
• 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
• 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism
• A 24.2-Mb deletion of 4q12 --&gt; q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
• A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
• A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature
• A case of mosaic ring chromosome 4 with subtelomeric 4p deletion
• A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
• A critical region for ulnar defects in patients with 4q deletions may be narrowed
• A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
• 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
• Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss
• An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review
• An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature
• Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review
• Analysis of ovarian cancer cell lines using array-based comparative genomic hybridization
• Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review
• Bilateral absence of the ulna in 4q terminal deletion syndrome: evidence for a critical region
• Bilateral optic disk swelling in the 4q34 deletion syndrome
• Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature
• Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene
• Children with 4q-syndrome: the parents' perspective
• Chromosome 4q deletion syndrome: craniofacial characteristics associated with monosomy of the long arm of chromosome 4q
• Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3
• Chronic eosinophilic leukemia presenting with mouth and penile ulcers
• Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature
• Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes
• Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review
• Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion
• Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement?
• Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors
• Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation
• Cryptic 13q34 and 4q35.2 Deletions in an Italian Family
• Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype
• Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient
• Cytogenetic and molecular genetic alterations on chromosome 4q in human hepatocellular carcinoma
• De novo 4q duplication/deletion in a fetus with a congenital heart defect
• De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report
• Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
• Deletion of chromosome 4q predicts outcome in stage II colon cancer patients
• Deletion of chromosome 4q predicts outcome in stage II colon cancer patients
• Dysmorphological and pharmacological studies in 4q- syndrome
• Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?
• 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
• Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy
• Genomic profiles associated with early micrometastasis in lung cancer: relevance of 4q deletion
• Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region
• Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
• Identification of HERC5 and its potential role in NSCLC progression
• Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis
• Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation
• Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
• Investigation of 4q-deletion in two unrelated patients using array CGH
• Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy
• Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
• Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1)
• Loss of cGMP-dependent protein kinase II alters ultrasonic vocalizations in mice, a model for speech impairment in human microdeletion 4q21 syndrome
• Losses at chromosome 4q are associated with poor survival in operable ductal pancreatic adenocarcinoma
• Mandibular distraction in the setting of chromosome 4q deletion
• Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication
• Molecular characterization of a consistent 4.5-megabase deletion at 4q28 in prostate cancer cells
• Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis
• Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents
• Mosaicism for terminal deletion of 4q
• Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics
• Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
• No association of toll-like receptor 2 polymorphisms with Alzheimer's disease in Han Chinese
• Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication
• Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3)
• PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
• Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
• Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings
• Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature
• Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings
• Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
• Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality
• Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature
• Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops
• Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs
• Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication
• Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature
• Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion
• Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy
• Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability
• Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
• Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features
• Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
• The hypereosinophilic syndrome: fluorescence in situ hybridization detects the del(4)(q12)-FIP1L1/PDGFRA but not genomic rearrangements of other tyrosine kinases
• The spectrum of 4q- syndrome illustrated by a case series
• The tale of a nail sign in chromosome 4q34 deletion syndrome
• Tumor suppress genes screening analysis on 4q in sporadic colorectal carcinoma
• Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype
• Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings